A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3640479



Internal ID18938760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99417695..99599530hg38UCSC Ensembl
Innerchr5:98753399..98935234hg19UCSC Ensembl
Innerchr5:98781298..98963133hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38181836
hg19181836
hg18181836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023117
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3640479
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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