A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012794



Internal ID76201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59210516..59211964hg38UCSC Ensembl
chr8:60123075..60124523hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381449
hg191449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486609
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012794
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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