A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524254



Internal ID15451547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113971527..114164720hg38UCSC Ensembl
Innerchr13:114740938..114930195hg19UCSC Ensembl
Innerchr13:113759040..113948297hg18UCSC Ensembl
Innerchr13:113759040..113948297hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38193194
hg19189258
hg18189258
hg17189258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121n21
Supporting Variantsnssv700150
Samples
Known GenesRASA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524254
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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