A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv437435

Internal ID15036167
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46496080..46499071hg38UCSC Ensembl
Outerchr2:46409828..46536448hg38UCSC Ensembl
Innerchr2:46723219..46726210hg19UCSC Ensembl
Outerchr2:46636967..46763587hg19UCSC Ensembl
Innerchr2:46576723..46579714hg18UCSC Ensembl
Outerchr2:46490471..46617091hg18UCSC Ensembl
Innerchr2:46697753..46700744hg16UCSC Ensembl
Outerchr2:46611501..46738121hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467316
Known GenesATP6V1E2, LOC101805491, TMEM247
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)nsv437435
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0

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