A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519334



Internal ID15446627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:59836258..59859390hg38UCSC Ensembl
Innerchr13:60410392..60433524hg19UCSC Ensembl
Innerchr13:59308393..59331525hg18UCSC Ensembl
Innerchr13:59308393..59331525hg17UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3823133
hg1923133
hg1823133
hg1723133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696798
Samples
Known GenesDIAPH3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519334
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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