A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015471



Internal ID77968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85344220..85344254hg38UCSC Ensembl
chr8:86256449..86256483hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551465
Supporting Variants
Samples
Known GenesCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008117


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