A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3739582



Internal ID18691177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4722315..5046200hg38UCSC Ensembl
Innerchr3:4763999..5087885hg19UCSC Ensembl
Innerchr3:4738999..5062885hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38323886
hg19323887
hg18323887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005718
Supporting Variants
Samples
Known GenesBHLHE40, BHLHE40-AS1, EGOT, ITPR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3739582
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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