A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017614



Internal ID79391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140397686..140512125hg38UCSC Ensembl
chr8:141407785..141522224hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38114440
hg19114440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489782
Supporting Variants
Samples
Known GenesCHRAC1, TRAPPC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017614
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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