A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478939



Internal ID256482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140309908..140309979hg38UCSC Ensembl
chr8:141320007..141320078hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017605
Samples
Known GenesTRAPPC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478939
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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