A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061309



Internal ID18803840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41683785..41724525hg38UCSC Ensembl
Innerchr19:42187716..42228445hg19UCSC Ensembl
Innerchr19:46879556..46920285hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3840741
hg1940730
hg1840730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567537
Samples
Known GenesCEACAM5, CEACAM7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061309
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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