A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3642120



Internal ID18593715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50820886hg38UCSC Ensembl
Innerchr5:49455624..50116720hg19UCSC Ensembl
Innerchr5:49491381..50152477hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38661097
hg19661097
hg18661097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016583
Supporting Variants
Samples
Known GenesEMB, PARP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3642120
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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