A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939122



Internal ID26800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129102712..129102963hg38UCSC Ensembl
chr3:128821555..128821806hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449391
Supporting Variants
Samples
Known GenesISY1-RAB43, RAB43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939122
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