A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672965



Internal ID15062931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165809591..166149690hg38UCSC Ensembl
Innerchr3:165527379..165867478hg19UCSC Ensembl
Innerchr3:167010073..167350172hg18UCSC Ensembl
Innerchr3:167010081..167350180hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38340100
hg19340100
hg18340100
hg17340100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520596
Supporting Variants
Samples
Known GenesBCHE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672965
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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