A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526048



Internal ID15453341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:94115057..94227965hg38UCSC Ensembl
Innerchr13:94767311..94880219hg19UCSC Ensembl
Innerchr13:93565312..93678220hg18UCSC Ensembl
Innerchr13:93565312..93678220hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38112909
hg19112909
hg18112909
hg17112909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702285
Samples
Known GenesGPC6, GPC6-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526048
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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