A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727038



Internal ID150704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42060190..42060190hg38UCSC Ensembl
chr21:43480299..43480299hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541434
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000157


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