A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520211



Internal ID15100818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51738331..52132131hg38UCSC Ensembl
Innerchr3:51772347..52166147hg19UCSC Ensembl
Innerchr3:51747387..52141187hg18UCSC Ensembl
Innerchr3:51747387..52141187hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38393801
hg19393801
hg18393801
hg17393801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697283
Samples
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ACY1, DUSP7, GPR62, IQCF1, IQCF2, IQCF3, IQCF4, IQCF5, IQCF6, LINC00696, PARP3, PCBP4, POC1A, RPL29, RRP9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520211
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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