A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532278



Internal ID308204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69677060..69924863hg38UCSC Ensembl
chr16:69710963..69958766hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38247804
hg19247804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707135
Samples
Known GenesNFAT5, NOB1, NQO1, WWP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532278
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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