A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4824n54



Internal ID22772719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:605686..670986hg38UCSC Ensembl
chr16:655686..720986hg19UCSC Ensembl
chr16:595687..660987hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3865301
hg1965301
hg1865301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571014, nsv571013
SamplesNINDS_119, HGDP00619
Known GenesC16orf13, FAM195A, RAB40C, RHOT2, WDR90, WFIKKN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4824n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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