A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610764



Internal ID16051487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22031342..22094715hg38UCSC Ensembl
Innerchr8:21888853..21952226hg19UCSC Ensembl
Innerchr8:21944799..22008172hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3863374
hg1963374
hg1863374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1107472
Samples
Known GenesDMTN, FAM160B2, FGF17, NPM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610764
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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