A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734634



Internal ID158300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31255036..31255087hg38UCSC Ensembl
chr21:32627352..32627403hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431517
Supporting Variants
Samples
Known GenesTIAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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