A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016520



Internal ID78672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129124349..129131943hg38UCSC Ensembl
chr8:130136595..130144189hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg387595
hg197595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479510
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016520
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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