A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016229



Internal ID78468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99972947..99974681hg38UCSC Ensembl
chr8:100985175..100986909hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381735
hg191735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483761
Supporting Variants
Samples
Known GenesRGS22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016229
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