A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519841



Internal ID15100448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43169482..43936548hg38UCSC Ensembl
Innerchr8:43024625..43791691hg19UCSC Ensembl
Innerchr8:43143782..43910848hg18UCSC Ensembl
Innerchr8:43143782..43910848hg17UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38767067
hg19767067
hg18767067
hg17767067
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692040, nssv685362, nssv691410, nssv658988, nssv689990, nssv701354, nssv686284, nssv671799, nssv688817, nssv662225, nssv704757, nssv687308
Samples
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519841
Frequency
Sample Size2026
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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