A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675444



Internal ID15065410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11121940..11133687hg38UCSC Ensembl
Innerchr2:11262066..11273813hg19UCSC Ensembl
Innerchr2:11179517..11191264hg18UCSC Ensembl
Innerchr2:11212664..11224411hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3811748
hg1911748
hg1811748
hg1711748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520789
Supporting Variants
Samples
Known GenesC2orf50, FLJ33534
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675444
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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