A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555282



Internal ID328444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47991200..47991204hg38UCSC Ensembl
chr8:48903760..48903764hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010832
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555282
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