A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592508



Internal ID16379917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:171344097..171360042hg38UCSC Ensembl
Innerchr3:171061886..171077831hg19UCSC Ensembl
Innerchr3:172544580..172560525hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3815946
hg1915946
hg1815946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152054
Samples1780862229_A
Known GenesTNIK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592508
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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