A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009172



Internal ID73753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20523425..20526655hg38UCSC Ensembl
chr8:20380936..20384166hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383231
hg193231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484383
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009172
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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