A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716643



Internal ID140309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23174489..23174525hg38UCSC Ensembl
chr18:20754453..20754489hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547813
Supporting Variants
Samples
Known GenesCABLES1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer