A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716685



Internal ID140351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24331401..24331694hg38UCSC Ensembl
chr18:21911365..21911658hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515793
Supporting Variants
Samples
Known GenesOSBPL1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716685
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004079


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