A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612575



Internal ID16399984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141269984..141423771hg38UCSC Ensembl
Innerchr8:142280083..142433871hg19UCSC Ensembl
Innerchr8:142349265..142503053hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38153788
hg19153789
hg18153789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156890
Samples1780862071_A
Known GenesGPR20, LOC731779, PTP4A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612575
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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