A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019539



Internal ID18762074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50406902hg38UCSC Ensembl
Innerchr5:49455624..49702736hg19UCSC Ensembl
Innerchr5:49491381..49738493hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38247113
hg19247113
hg18247113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5664n100
Supporting Variantsnssv3642117
Samples
Known GenesEMB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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