A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016583



Internal ID18759118
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 StatusM
Merged Variantsdgv5665n100
Supporting Variantsnssv3642120
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)nsv1016583
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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