A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4841n54



Internal ID20138265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1142213..1220162hg38UCSC Ensembl
chr16:1192213..1270162hg19UCSC Ensembl
chr16:1132214..1210163hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3877950
hg1977950
hg1877950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571104, nsv571103
SamplesHGDP00656
Known GenesCACNA1H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4841n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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