A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001980



Internal ID18744511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:114781990..114793754hg38UCSC Ensembl
Innerchr2:115539567..115551331hg19UCSC Ensembl
Innerchr2:115256037..115267801hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3811765
hg1911765
hg1811765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580267
Samples
Known GenesDPP10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001980
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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