A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586904



Internal ID18538499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232868642..232895154hg38UCSC Ensembl
Innerchr2:233733352..233759864hg19UCSC Ensembl
Innerchr2:233441596..233468108hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3826513
hg1926513
hg1826513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999116
Supporting Variants
Samples
Known GenesC2orf82, NGEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586904
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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