A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4194n54



Internal ID22772089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20370594..20689298hg38UCSC Ensembl
chr15:20575847..20894627hg19UCSC Ensembl
chr15:18835861..19194596hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38318705
hg19318781
hg18358736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv567428, nsv567367
Samples
Known GenesGOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4194n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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