A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523218



Internal ID299462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67896636..67899741hg38UCSC Ensembl
chr16:67930539..67933644hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383106
hg193106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707534
Samples
Known GenesPSKH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523218
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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