A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014301



Internal ID77202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103407968..103408020hg38UCSC Ensembl
chr8:104420196..104420248hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541902
Supporting Variants
Samples
Known GenesSLC25A32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014301
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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