A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016486



Internal ID78649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128578960..128610974hg38UCSC Ensembl
chr8:129591206..129623220hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3832015
hg1932015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477540
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016486
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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