A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004590



Internal ID18747121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2825734..3254031hg38UCSC Ensembl
Innerchr3:2867418..3295715hg19UCSC Ensembl
Innerchr3:2842418..3270715hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38428298
hg19428298
hg18428298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4636n100
Supporting Variantsnssv3590378
Samples
Known GenesCNTN4, CRBN, IL5RA, TRNT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004590
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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