A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517441



Internal ID15098048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31368323..31496186hg38UCSC Ensembl
Innerchr6:31336100..31463963hg19UCSC Ensembl
Innerchr6:31444079..31571942hg18UCSC Ensembl
Innerchr6:31444079..31571942hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38127864
hg19127864
hg18127864
hg17127864
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv668189, nssv664835, nssv665347, nssv668860, nssv689945, nssv674241, nssv657284, nssv657866, nssv671309, nssv660391, nssv666800, nssv654364, nssv686749, nssv681090, nssv655952, nssv662665, nssv685851, nssv690083, nssv662567, nssv678579, nssv680117, nssv670788, nssv684684, nssv687804, nssv678282, nssv654414, nssv654787, nssv665155, nssv685386, nssv657957, nssv656813, nssv689521, nssv672577, nssv654908, nssv663432, nssv687336, nssv693235, nssv658685, nssv685850, nssv656529, nssv658197, nssv674182, nssv677365, nssv670680, nssv698611, nssv673735, nssv655290, nssv678651, nssv685059, nssv682938, nssv685884, nssv655175, nssv693114, nssv652028, nssv659386, nssv689876, nssv653006, nssv672409, nssv681747, nssv690743, nssv694041, nssv691813, nssv693197, nssv674498, nssv685312, nssv668821, nssv688113, nssv674063, nssv686748, nssv686570, nssv691588, nssv686432, nssv683405, nssv657149, nssv661084, nssv686937, nssv671878, nssv684218, nssv655412, nssv662302, nssv691883, nssv694201, nssv683229, nssv687534, nssv694001, nssv688644, nssv689155, nssv681759, nssv673247
Samples
Known GenesHCG26, HCP5, MICA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517441
Frequency
Sample Size2026
Observed Gain11
Observed Loss78
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer