A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3642112



Internal ID18940393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50290669hg38UCSC Ensembl
Innerchr5:49455624..49586503hg19UCSC Ensembl
Innerchr5:49491381..49622260hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38130880
hg19130880
hg18130880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034906
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)nssv3642112
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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