A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592035



Internal ID16379444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150760231..150763234hg38UCSC Ensembl
Innerchr3:150478018..150481021hg19UCSC Ensembl
Innerchr3:151960708..151963711hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg383004
hg193004
hg183004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8650n54
Supporting Variantsnssv976732
Samples
Known GenesSIAH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592035
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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