1: CODING # Coding HL7 V2 HL7 OID Description and sources System Linkage name Name Cytogenetic 2.16.840.1.113883.6.335 National Center for Biotechnology Information (NCBI) 1 Source Organization: Source table information: Pending location Source table download: Pending Place to Explore Table : https://lforms-service.nlm.nih.gov/apidoc/cytogenetic_locs/v1/doc.html Chromosome location (AKA chromosome or cytogenetic location), is the Description: standardized syntax for recording the position of genes and large mutations. It consists of three parts: the Chromosome number (e.g. 1-22, X, Y), an indicator of which arm either for the – “p” short or for the long, and then a series of numbers separated by dots that indicate the band, “q” sub band and sub-sub band of the locus (e.g. 2p16.3). There are other conventions for reporting ranges and locations at the ends of the chromosomes. The of these chromosome locations was loaded with all of the locations found in NCBI’s ClinVar variation tables. It will expand as additional sources become available. This does not include all finely grained chromosome locations that exist. Users can add to it as needed. We have not found a table of chromosome locations with standard codes. Balloters: if you know of a publicly available and maintained list of chromosome locations with standard codes please forward to us. Balloters: Adjacent chromosome locations are sometimes together (e.g. as or “4q23.1q23.2”) we have also seen them as which we think is clearer. Is one strongly preferred over “4q23.1-q23.2” the other?
1: CODING # Coding System name HL7 V2 Linkage Name HL7 OID Description and sources 1 Cytogenetic location 2.16.840.1.113883.6.335 Source Organization: National Center for Biotechnology Information (NCBI) Source table information: Pending Source table download: Pending Place to Explore Table : https://lforms-service.nlm.nih.gov/apidoc/cytogenetic_locs/v1/doc.html Description: Chromosome location (AKA chromosome or cytogenetic location), is the standardized syntax for recording the position of genes and large mutations. It consists of three parts: the Chromosome number (e.g. 1-22, X, Y), an indicator of which arm – either “p” for the short or “q” for the long, and then a series of numbers separated by dots that indicate the band, sub band and sub-sub band of the locus (e.g. 2p16.3). There are other conventions for reporting ranges and locations at the ends of the chromosomes. The of these chromosome locations was loaded with all of the locations found in NCBI’s ClinVar variation tables. It will expand as additional sources become available. This does not include all finely grained chromosome locations that exist. Users can add to it as needed. We have not found a table of chromosome locations with standard codes. Balloters: if you know of a publicly available and maintained list of chromosome locations with standard codes please forward to us. Balloters: Adjacent chromosome locations are sometimes together (e.g. as “4q23.1q23.2”) or we have also seen them as “4q23.1-q23.2” which we think is clearer. Is one strongly preferred over the other?
2016-08-04-1800_6PM_Clinical_Genomics_Coded_Reporting_Lab_US_Realm_IG.docx