A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv467603

Internal ID15035501
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4284377..4287502hg38UCSC Ensembl
Outerchr12:4282166..4287580hg38UCSC Ensembl
Innerchr12:4393543..4396668hg19UCSC Ensembl
Outerchr12:4391332..4396746hg19UCSC Ensembl
Innerchr12:4263804..4266929hg18UCSC Ensembl
Outerchr12:4261593..4267007hg18UCSC Ensembl
Innerchr12:4263804..4266929hg16UCSC Ensembl
Outerchr12:4261593..4267007hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele OriginGermline
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437722
Supporting Variants
Known GenesCCND2
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)nssv467603
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0

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