A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4180n54



Internal ID22772075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20237999..21053708hg38UCSC Ensembl
chr15:20443252..21259037hg19UCSC Ensembl
chr15:18703266..19523696hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38815710
hg19815786
hg18820431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv567438, nsv567303
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4180n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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