A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515694



Internal ID6014661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19821233..19824896hg19UCSC Ensembl
Innerchr8:19865513..19869176hg18UCSC Ensembl
Innerchr8:19865513..19869176hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv671071, nssv667012, nssv690297, nssv691763, nssv654766, nssv684287, nssv680848, nssv658398, nssv664442, nssv669946, nssv670870, nssv665849, nssv656067
Samples
Known GenesLPL
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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