A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419993



Internal ID199111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9953394..9953445hg38UCSC Ensembl
chr21:10431422..10431473hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733890
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419993
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