A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017639



Internal ID79412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143177946..143178019hg38UCSC Ensembl
chr8:144259363..144259436hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142477
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017639
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00172


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