A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968605



Internal ID46390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82270256..82273656hg38UCSC Ensembl
chr5:81566075..81569475hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468363
Supporting Variants
Samples
Known GenesRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968605
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.066968


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