A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058847



Internal ID18801378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41550966..41668514hg38UCSC Ensembl
Innerchr19:42057334..42172442hg19UCSC Ensembl
Innerchr19:46749174..46864282hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38117549
hg19115109
hg18115109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3549n100
Supporting Variantsnssv3567536, nssv3567535
Samples
Known GenesCEACAM21, CEACAM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058847
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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