A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726867



Internal ID150533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38996831..38996882hg38UCSC Ensembl
chr21:40368757..40368808hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385553
hg195553
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563281
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726867
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