A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516828



Internal ID293277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67479917..67480220hg38UCSC Ensembl
chr16:67513820..67514123hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707504
Samples
Known GenesATP6V0D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516828
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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