A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517143



Internal ID15097750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54714333..54866553hg38UCSC Ensembl
Innerchr19:55225835..55378008hg19UCSC Ensembl
Innerchr19:59917647..60069820hg18UCSC Ensembl
Innerchr19:59917647..60069820hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38152221
hg19152174
hg18152174
hg17152174
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656231, nssv692001, nssv652769, nssv662492, nssv674606, nssv693435, nssv685457, nssv672283, nssv674720, nssv685844, nssv692378, nssv671939, nssv666153, nssv663731, nssv678242, nssv680858, nssv678792, nssv673788, nssv654051, nssv655448, nssv687937, nssv659452, nssv683051, nssv660591, nssv674905, nssv685814, nssv680744, nssv672677, nssv690325, nssv667401, nssv651845, nssv671967, nssv686872, nssv659853, nssv669012, nssv680912, nssv667467, nssv686952, nssv682943, nssv678572, nssv676660, nssv669671, nssv687107, nssv690833, nssv653901, nssv671295, nssv681766, nssv659986, nssv681282, nssv661607, nssv680884, nssv676468, nssv660958, nssv673507, nssv674342, nssv664898, nssv675171, nssv681121, nssv689457, nssv654933, nssv696232, nssv674805, nssv692544, nssv663890, nssv692992, nssv662697, nssv664851, nssv684528, nssv688839, nssv680772, nssv686161, nssv688996, nssv652899, nssv680170, nssv658718, nssv660289, nssv660453, nssv683450, nssv692148, nssv659820, nssv668942, nssv675198, nssv687694, nssv658125, nssv656459, nssv681971, nssv672706, nssv673109, nssv658431, nssv661168, nssv669452, nssv684995, nssv657741, nssv670239, nssv684316, nssv666458, nssv673027, nssv665801, nssv688188, nssv662146, nssv670961, nssv688884, nssv663398, nssv660333, nssv692673, nssv677275, nssv687069, nssv658455, nssv653954, nssv687327, nssv682983, nssv688139, nssv656141, nssv692059, nssv658284, nssv682731, nssv665824, nssv667899, nssv675793, nssv666128, nssv686384, nssv671228, nssv692314, nssv687724, nssv691671, nssv669868, nssv692515, nssv677656, nssv675602, nssv675468, nssv655505, nssv673537, nssv666101, nssv653860, nssv678072, nssv693167, nssv669378, nssv688591
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517143
Frequency
Sample Size2026
Observed Gain23
Observed Loss115
Observed Complex0
Frequencyn/a


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