A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682806



Internal ID15072772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179883350..179983761hg38UCSC Ensembl
Innerchr2:180748077..180848488hg19UCSC Ensembl
Innerchr2:180456322..180556733hg18UCSC Ensembl
Innerchr2:180573583..180673994hg17UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38100412
hg19100412
hg18100412
hg17100412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521134
Supporting Variants
Samples
Known GenesCWC22
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682806
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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