A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592250



Internal ID16379659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:162794895..163051176hg38UCSC Ensembl
Innerchr3:162512683..162768964hg19UCSC Ensembl
Innerchr3:163995377..164251658hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38256282
hg19256282
hg18256282
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv978205, nssv978198, nssv978202, nssv978199, nssv978201, nssv978204, nssv978200, nssv978203
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592250
Frequency
Sample Size17421
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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