A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063241



Internal ID18805772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41550966..41671232hg38UCSC Ensembl
Innerchr19:42057334..42175160hg19UCSC Ensembl
Innerchr19:46749174..46867000hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38120267
hg19117827
hg18117827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3549n100
Supporting Variantsnssv3722781
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)nsv1063241
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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