A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727059



Internal ID150725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42432404..42432404hg38UCSC Ensembl
chr21:43852513..43852513hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535611
Supporting Variants
Samples
Known GenesUBASH3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.060169


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