A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv467068

Internal ID15034724
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54036948..54038008hg38UCSC Ensembl
Outerchr20:54027975..54043581hg38UCSC Ensembl
Innerchr20:52653487..52654547hg19UCSC Ensembl
Outerchr20:52644514..52660120hg19UCSC Ensembl
Innerchr20:52086894..52087954hg18UCSC Ensembl
Outerchr20:52077921..52093527hg18UCSC Ensembl
Innerchr20:53338909..53339969hg16UCSC Ensembl
Outerchr20:53329936..53345542hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele OriginGermline
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437187
Supporting Variants
Known GenesBCAS1
MethodSNP array
AnalysisOur algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother; (B) Type I mendelian incompatibility involving father; (C) Type II mendelian incompatibility (that is, inconsistent with deletion); (D) child homozygous or missing data, both parents homozygous or missing data; (E) child homozygous or missing data, father heterozygous, mother homozygous or missing data; (F) child homozygous or missing data, mother heterozygous, father homozygous or missing data; (G) child heterozygous or both parents heterozygous (see Supplementary Methods for further details). SNPs were assigned to states D-G only if they did not contain mendelian incompatibilities. A run of consecutive SNPs in a particular trio was considered to be consistent with a maternal transmitted deletion if all SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F.
PlatformNot reported
Pubmed ID16327808
Accession Number(s)nssv467068
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0

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