A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018541



Internal ID80001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123411168..123411268hg38UCSC Ensembl
chr8:124423408..124423508hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485021
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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