A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716681



Internal ID140347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24289581..24294522hg38UCSC Ensembl
chr18:21869545..21874486hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg384942
hg194942
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524127
Supporting Variants
Samples
Known GenesOSBPL1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716681
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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