A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv437590

Internal ID15036322
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:81946916..81947027hg38UCSC Ensembl
Outerchr1:81946190..81949012hg38UCSC Ensembl
Innerchr1:82412600..82412711hg19UCSC Ensembl
Outerchr1:82411874..82414696hg19UCSC Ensembl
Innerchr1:82185188..82185299hg18UCSC Ensembl
Outerchr1:82184462..82187284hg18UCSC Ensembl
Innerchr1:81835193..81835304hg16UCSC Ensembl
Outerchr1:81834467..81837289hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467471
Known GenesLPHN2
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)nsv437590
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0

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