A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016418



Internal ID78597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127701006..127705205hg38UCSC Ensembl
chr8:128713251..128717450hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474884
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016418
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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