A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517462



Internal ID15444755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111570373..111575088hg38UCSC Ensembl
Innerchr5:110906071..110910785hg19UCSC Ensembl
Innerchr5:110933970..110938684hg18UCSC Ensembl
Innerchr5:110933970..110938684hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg384716
hg194715
hg184715
hg174715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691032, nssv691395, nssv665049, nssv666083, nssv682990, nssv682579, nssv659117, nssv665618, nssv667982, nssv670104, nssv676941, nssv673881, nssv681746, nssv671860, nssv674510, nssv668819, nssv667531, nssv686607, nssv685306, nssv684578, nssv659484, nssv658772, nssv702687, nssv669256, nssv653869, nssv684033, nssv674725, nssv673495, nssv689317, nssv653941, nssv672086, nssv662281, nssv670421, nssv654064, nssv691853, nssv654889, nssv675798, nssv690329, nssv685466, nssv684766, nssv681314, nssv680753, nssv681877, nssv666524, nssv673689, nssv684281, nssv661078, nssv674177, nssv677513, nssv686533, nssv676758, nssv656864, nssv656339, nssv687897, nssv682468, nssv694073, nssv655091, nssv675269, nssv656524, nssv680921, nssv678929, nssv658076
Samples
Known GenesSTARD4-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517462
Frequency
Sample Size2026
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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