A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702582



Internal ID15092548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112693921..112738208hg38UCSC Ensembl
Innerchr2:113451498..113495785hg19UCSC Ensembl
Innerchr2:113167969..113212256hg18UCSC Ensembl
Innerchr2:113167729..113212016hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3844288
hg1944288
hg1844288
hg1744288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526301
Supporting Variants
Samples
Known GenesCKAP2L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702582
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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