A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529784



Internal ID305789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69317451..69317521hg38UCSC Ensembl
chr16:69351354..69351424hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707118
Samples
Known GenesVPS4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529784
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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