A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416053



Internal ID195294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67198847..67198898hg38UCSC Ensembl
chr16:67232750..67232801hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707485
Samples
Known GenesE2F4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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