A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014119



Internal ID77088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83918107..83918158hg38UCSC Ensembl
chr8:84830342..84830393hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563451
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014119
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002036


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