A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415532



Internal ID194788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29386214..29386265hg38UCSC Ensembl
chr21:30758534..30758585hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726520
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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