A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690134



Internal ID15426786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45139492..45141551hg38UCSC Ensembl
Innerchr2:45366631..45368690hg19UCSC Ensembl
Innerchr2:45220135..45222194hg18UCSC Ensembl
Innerchr2:45278282..45280341hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382060
hg192060
hg182060
hg172060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520318
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690134
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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