A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394559



Internal ID173988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62221912..62221963hg38UCSC Ensembl
chr8:63134471..63134522hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011752
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394559
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