A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516063



Internal ID15443356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46031220..46828229hg38UCSC Ensembl
Innerchr8:46942842..47739851hg19UCSC Ensembl
Innerchr8:47062007..47859016hg18UCSC Ensembl
Innerchr8:47062007..47859016hg17UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38797010
hg19797010
hg18797010
hg17797010
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700278, nssv695868, nssv652464, nssv687466, nssv672150, nssv664621, nssv672362, nssv661004, nssv654214, nssv701099, nssv688097, nssv683605, nssv693391, nssv681923, nssv663256, nssv663689, nssv663552, nssv692908, nssv701513, nssv670084, nssv697854, nssv677632, nssv672151, nssv705174, nssv669615, nssv653291, nssv661527, nssv680366, nssv670791, nssv658158, nssv654717, nssv660919, nssv695656, nssv682503, nssv651836, nssv702321, nssv654196, nssv687189, nssv658399, nssv665404, nssv667303, nssv660044, nssv698565, nssv682216, nssv672779, nssv705949, nssv689835, nssv657467, nssv703638, nssv692273, nssv676704, nssv685625, nssv668692, nssv672838, nssv677780, nssv678978, nssv679633, nssv667013, nssv684878, nssv688035, nssv691280, nssv665942, nssv662637, nssv671503, nssv654924, nssv668745, nssv652267, nssv675245, nssv688565, nssv674760, nssv670133, nssv685677, nssv701098, nssv689135
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516063
Frequency
Sample Size2026
Observed Gain24
Observed Loss50
Observed Complex0
Frequencyn/a


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