A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719557



Internal ID143223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75845676..75845726hg38UCSC Ensembl
chr18:73557631..73557681hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384092
hg194092
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562409
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719557
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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