A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699883



Internal ID15089849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130724906..131553515hg38UCSC Ensembl
Innerchr2:131482479..132311088hg19UCSC Ensembl
Innerchr2:131198949..132027558hg18UCSC Ensembl
Innerchr2:131316198..132144820hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38828610
hg19828610
hg18828610
hg17828623
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524021
Supporting Variants
Samples
Known GenesAMER3, ARHGEF4, CCDC74A, FAM168B, GPR148, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, POTEE, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699883
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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