A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734733



Internal ID158399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34806806..34806806hg38UCSC Ensembl
chr21:36179103..36179103hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538153
Supporting Variants
Samples
Known GenesRUNX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734733
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