A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533599



Internal ID309487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67588192..68015024hg38UCSC Ensembl
chr18:65255429..65682261hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38426833
hg19426833
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719070
Samples
Known GenesLOC643542
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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