A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489782



Internal ID267053
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 StatusM
Merged Variants
Supporting Variantsnssv17017614
Samples
Known GenesCHRAC1, TRAPPC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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