A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016423



Internal ID78602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127728840..127733884hg38UCSC Ensembl
chr8:128741086..128746130hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385045
hg195045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486226
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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