A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018091



Internal ID79710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127330994..127331301hg38UCSC Ensembl
chr8:128343239..128343546hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483733
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018091
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.013425


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