A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016483



Internal ID78647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128543438..128545349hg38UCSC Ensembl
chr8:129555684..129557595hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg381912
hg191912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490833
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016483
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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