A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519445



Internal ID15100052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51970301..52333916hg38UCSC Ensembl
Innerchr3:52004317..52367932hg19UCSC Ensembl
Innerchr3:51979357..52342972hg18UCSC Ensembl
Innerchr3:51979357..52342972hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38363616
hg19363616
hg18363616
hg17363616
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656217, nssv657083, nssv694993, nssv681602, nssv698511, nssv687073
Samples
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ACY1, ALAS1, DNAH1, DUSP7, GLYCTK, LINC00696, MIR135A1, MIRLET7G, POC1A, PPM1M, RPL29, TLR9, TWF2, WDR82
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519445
Frequency
Sample Size2026
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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