A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004311



Internal ID18746842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9824190..9976790hg38UCSC Ensembl
Innerchr4:9825814..9978414hg19UCSC Ensembl
Innerchr4:9434912..9587512hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38152601
hg19152601
hg18152601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5118n100
Supporting Variantsnssv3613421
Samples
Known GenesSLC2A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004311
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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