A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569692



Internal ID16357101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:63189850..63190379hg38UCSC Ensembl
Innerchr15:63482049..63482578hg19UCSC Ensembl
Innerchr15:61269102..61269631hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38530
hg19530
hg18530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4569n54
Supporting Variantsnssv843956, nssv843955, nssv843954
Samples
Known GenesRAB8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569692
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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