A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517205



Internal ID15097812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25244661..25629591hg38UCSC Ensembl
Innerchr22:25640628..26025558hg19UCSC Ensembl
Innerchr22:23970628..24355558hg18UCSC Ensembl
Innerchr22:23965182..24350112hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38384931
hg19384931
hg18384931
hg17384931
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673005, nssv698888, nssv687410, nssv656011, nssv684029, nssv689000, nssv672320, nssv671428, nssv677476, nssv660516, nssv702909, nssv687820, nssv696936, nssv686263, nssv657257, nssv692127, nssv660183, nssv684319, nssv693856, nssv672531, nssv687008, nssv658950, nssv654847, nssv691806, nssv656286, nssv686793, nssv672738, nssv684745, nssv680212, nssv660962, nssv664408, nssv670966, nssv683930, nssv689289, nssv690196, nssv677453, nssv659116, nssv661415, nssv693230, nssv664356, nssv679256, nssv652745, nssv677095, nssv700084, nssv660198, nssv693603, nssv659720, nssv702137, nssv673053, nssv705963, nssv702381, nssv678172, nssv693037, nssv659804, nssv663401, nssv689220, nssv664597, nssv678884, nssv693260, nssv673208, nssv661387, nssv689898, nssv686140, nssv654627, nssv674415, nssv678688, nssv672509, nssv675834, nssv682522, nssv700151, nssv697028, nssv681554, nssv692633, nssv668791, nssv681721, nssv657398, nssv654009, nssv680153, nssv666481, nssv665971, nssv656980, nssv651985, nssv656123, nssv652560, nssv678224, nssv705590, nssv684242, nssv657281, nssv680127, nssv671268, nssv668559, nssv702380, nssv687177, nssv659454, nssv661072, nssv683713, nssv657937, nssv677873, nssv658540, nssv654259, nssv651783
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517205
Frequency
Sample Size2026
Observed Gain46
Observed Loss55
Observed Complex0
Frequencyn/a


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