A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719583



Internal ID143249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76218710..76226693hg38UCSC Ensembl
chr18:73930665..73938648hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg387984
hg197984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527711
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719583
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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