A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586822



Internal ID18538417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221490753..221993406hg38UCSC Ensembl
Innerchr2:222355473..222858125hg19UCSC Ensembl
Innerchr2:222063717..222566369hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38502654
hg19502653
hg18502653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013987
Supporting Variants
Samples
Known GenesEPHA4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586822
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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