A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519357



Internal ID295708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31791613..31908545hg38UCSC Ensembl
chr18:29371576..29488508hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38116933
hg19116933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717096
Samples
Known GenesTRAPPC8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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