A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515694



Internal ID8409969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19963722..19967385hg38UCSC Ensembl
Innerchr8:19821233..19824896hg19UCSC Ensembl
Innerchr8:19865513..19869176hg18UCSC Ensembl
Innerchr8:19865513..19869176hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383664
hg193664
hg183664
hg173664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671071, nssv667012, nssv690297, nssv691763, nssv654766, nssv684287, nssv680848, nssv658398, nssv664442, nssv669946, nssv670870, nssv665849, nssv656067
Samples
Known GenesLPL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515694
Frequency
Sample Size2026
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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