A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4957n54



Internal ID22772852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23148644..23152133hg38UCSC Ensembl
chr16:23159965..23163454hg19UCSC Ensembl
chr16:23067466..23070955hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg383490
hg193490
hg183490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571686, nsv571680
Samples
Known GenesUSP31
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4957n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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