C.6 NM Genomic structural 3.1 1 O 0..1 The copy number of the large variant when applicable. In HGVS, this is the variant copy number numeric value following the It is a unit-less value. Note that a copy “X”. number of 1 implies a deletion. The copy number can usually be inferred from the HGVS or ISCN fields. C.7 NR 81287-5 Genomic structural 3.1 14184616^15581544 O 0..1 The reported start and end of the structural variant, when distinctions variant start-end between outer bound and inner bounds are not made. A common reality. (See Rows G and Row H). C.8 NM 81299-0 Genomic structural 3.1 .48 C 0..1 Usually only applicable to ArrCGH and related studies. variant reported arrCGH Its value is a number less than 1. ratio C.9 CWE 81289-1 DNA structural variation 3.1 LA6686-5^Deletion^LN O 0..1 Answer List: LL4033-8 type Answer list is taken from the NCBI dbVar website which was taken from Sequence Ontology . The DNA structural variation type is also often carried in the HGVS expression, but as a shortened abbreviation.
C.6 NM Genomic structural variant copy number 3.1 1 O 0..1 The copy number of the large variant when applicable. In HGVS, this is the numeric value following the “X”. It is a unit-less value. Note that a copy number of 1 implies a deletion. The copy number can usually be inferred from the HGVS or ISCN fields. C.7 NR 81287-5 Genomic structural variant start-end 3.1 14184616^15581544 O 0..1 The reported start and end of the structural variant, when distinctions between outer bound and inner bounds are not made. A common reality. (See Rows G and Row H). C.8 NM 81299-0 Genomic structural variant reported arrCGH ratio 3.1 .48 C 0..1 Usually only applicable to ArrCGH and related studies. Its value is a number less than 1. C.9 CWE 81289-1 DNA structural variation type 3.1 LA6686-5^Deletion^LN O 0..1 Answer List: LL4033-8 Answer list is taken from the NCBI dbVar website which was taken from Sequence Ontology . The DNA structural variation type is also often carried in the HGVS expression, but as a shortened abbreviation.
2016-08-04-1800_6PM_Clinical_Genomics_Coded_Reporting_Lab_US_Realm_IG.docx