A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523214



Internal ID15103821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93469432..93474572hg38UCSC Ensembl
Innerchr13:94121685..94126825hg19UCSC Ensembl
Innerchr13:92919686..92924826hg18UCSC Ensembl
Innerchr13:92919686..92924826hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg385141
hg195141
hg185141
hg175141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698935
Samples
Known GenesGPC6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523214
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer