A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4320n54



Internal ID20137744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22708781..23117883hg38UCSC Ensembl
chr15:22755185..23164315hg19UCSC Ensembl
chr15:20306549..20715756hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38409103
hg19409131
hg18409208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv568242, nsv568239, nsv568236, nsv568245, nsv568255, nsv568234, nsv568240, nsv568238, nsv568237, nsv568243
SamplesHGDP00428, HGDP01103, HGDP00969, HGDP01348, HGDP00239, HGDP00701
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4320n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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