A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520173



Internal ID15100780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12930203..12972003hg38UCSC Ensembl
Innerchr12:13083137..13124937hg19UCSC Ensembl
Innerchr12:12974404..13016204hg18UCSC Ensembl
Innerchr12:12974404..13016204hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3841801
hg1941801
hg1841801
hg1741801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697262
Samples
Known GenesGPRC5D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520173
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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