A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610765



Internal ID16051488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22043573..22149780hg38UCSC Ensembl
Innerchr8:21901084..22007293hg19UCSC Ensembl
Innerchr8:21957030..22063238hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38106208
hg19106210
hg18106209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1107473
Samples
Known GenesDMTN, FAM160B2, FGF17, HR, LGI3, NUDT18, REEP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610765
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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