A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5117n54



Internal ID22773012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49855934..49858729hg38UCSC Ensembl
chr16:49889845..49892640hg19UCSC Ensembl
chr16:48447346..48450141hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg382796
hg192796
hg182796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572590, nsv572587, nsv572589, nsv572586, nsv572588
Samples
Known GenesZNF423
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5117n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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