A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517691



Internal ID15444984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..93135991hg38UCSC Ensembl
Innerchr14:93407062..93602336hg19UCSC Ensembl
Innerchr14:92476815..92672089hg18UCSC Ensembl
Innerchr14:92476815..92672089hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38195275
hg19195275
hg18195275
hg17195275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691830, nssv684457, nssv677693, nssv656776, nssv705995, nssv692205, nssv664427, nssv700336, nssv690283, nssv679774, nssv672549, nssv658492, nssv681077, nssv675694, nssv666512, nssv693329, nssv666994, nssv654341, nssv674744, nssv677468, nssv662858, nssv669425, nssv692466, nssv660973, nssv662012, nssv679614, nssv692255, nssv668099, nssv699499, nssv664563, nssv672826, nssv656432, nssv675305, nssv660929, nssv656744, nssv668472, nssv654669, nssv674530, nssv652858, nssv661601, nssv692796, nssv691975, nssv686616
Samples
Known GenesITPK1, ITPK1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517691
Frequency
Sample Size2026
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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