A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517848



Internal ID15098455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12313691..12582215hg38UCSC Ensembl
Innerchr1:12373748..12642243hg19UCSC Ensembl
Innerchr1:12296335..12564830hg18UCSC Ensembl
Innerchr1:12308014..12576509hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38268525
hg19268496
hg18268496
hg17268496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695253
Samples
Known GenesDHRS3, MIR6730, SNORA59A, SNORA59B, VPS13D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517848
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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