A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4178n54



Internal ID22772073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20188391..20428007hg38UCSC Ensembl
chr15:20393644..20633260hg19UCSC Ensembl
chr15:18653658..18893274hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38239617
hg19239617
hg18239617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv567297, nsv567314, nsv567295, nsv567266, nsv567251, nsv567236, nsv567283, nsv567286, nsv567267, nsv567245, nsv567285, nsv567240, nsv567268, nsv567293, nsv567302, nsv567242, nsv567253, nsv567264, nsv567279, nsv567281, nsv567248, nsv567250, nsv567252, nsv567233, nsv567307, nsv567265, nsv567246, nsv567287, nsv567244, nsv567294, nsv567280, nsv567249, nsv567261, nsv567296, nsv567269, nsv567260, nsv567258, nsv567301, nsv567263, nsv567300, nsv567284, nsv567255, nsv567259, nsv567243, nsv567232, nsv567234, nsv567235, nsv567237, nsv567241, nsv567256
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4178n54
Frequency
Sample Size17421
Observed Gain87
Observed Loss0
Observed Complex0
Frequencyn/a


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