A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579615



Internal ID16020338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41717515..41806347hg38UCSC Ensembl
Innerchr19:42221434..42310388hg19UCSC Ensembl
Innerchr19:46913274..47002228hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3888833
hg1988955
hg1888955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv899562
Samples
Known GenesCEACAM3, CEACAM5, CEACAM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579615
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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