A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987472



Internal ID59089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116695886..116695937hg38UCSC Ensembl
chr6:117017049..117017100hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399225
Supporting Variants
Samples
Known GenesKPNA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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