A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700094



Internal ID15090060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20248800..20303675hg38UCSC Ensembl
Innerchr2:20448561..20503436hg19UCSC Ensembl
Innerchr2:20312042..20366917hg18UCSC Ensembl
Innerchr2:20370189..20425064hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3854876
hg1954876
hg1854876
hg1754876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524207
Supporting Variants
Samples
Known GenesPUM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700094
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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