A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016500



Internal ID78659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128808033..128811416hg38UCSC Ensembl
chr8:129820279..129823662hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383384
hg193384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477593
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016500
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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