A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2726n223



Internal ID22805694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20541727..20735008hg38UCSC Ensembl
chr16:20553049..20746330hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38193282
hg19193282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6496238, nsv6503546
Samples
Known GenesACSM1, ACSM2B, THUMPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv2726n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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