A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523059



Internal ID299308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68004162..68045457hg38UCSC Ensembl
chr16:68038065..68079360hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3841296
hg1941296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707545
Samples
Known GenesDDX28, DUS2, LOC100131303
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523059
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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