A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524682



Internal ID300878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67480530..67496732hg38UCSC Ensembl
chr16:67514433..67530635hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3816203
hg1916203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707505
Samples
Known GenesAGRP, ATP6V0D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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