A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4947n54



Internal ID18997123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21587804..21736369hg38UCSC Ensembl
chr16:21599125..21747690hg19UCSC Ensembl
chr16:21506626..21655191hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38148566
hg19148566
hg18148566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571630, nsv571633, nsv571637, nsv571632, nsv571638
SamplesHGDP00697, HGDP00727
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4947n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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