A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv437298

Internal ID15036030
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151465581..151479914hg38UCSC Ensembl
Outerchr2:151463604..151499847hg38UCSC Ensembl
Innerchr2:152322095..152336428hg19UCSC Ensembl
Outerchr2:152320118..152356361hg19UCSC Ensembl
Innerchr2:152030341..152044674hg18UCSC Ensembl
Outerchr2:152028364..152064607hg18UCSC Ensembl
Innerchr2:152524640..152538973hg16UCSC Ensembl
Outerchr2:152522663..152558906hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467179
Known GenesNEB, RIF1
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)nsv437298
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0

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