A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4823n54



Internal ID20138247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:562698..662867hg38UCSC Ensembl
chr16:612698..712867hg19UCSC Ensembl
chr16:552699..652868hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38100170
hg19100170
hg18100170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571010, nsv571011
Samples
Known GenesC16orf11, C16orf13, FAM195A, NHLRC4, PIGQ, RAB40C, WDR90, WFIKKN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4823n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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