A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697828



Internal ID15087794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10900020..10926573hg38UCSC Ensembl
Innerchr2:11040146..11066699hg19UCSC Ensembl
Innerchr2:10957597..10984150hg18UCSC Ensembl
Innerchr2:10990744..11017297hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3826554
hg1926554
hg1826554
hg1726554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521177
Supporting Variants
Samples
Known GenesKCNF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697828
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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