A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419970



Internal ID199089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:64042670..64042721hg38UCSC Ensembl
chr16:64076574..64076625hg19UCSC Ensembl
Cytoband16q21
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 Variantsnssv17710077
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419970
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