A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516989



Internal ID293423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24155646..24156336hg38UCSC Ensembl
chr18:21735610..21736300hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716678
Samples
Known GenesCABYR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516989
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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