A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411649



Internal ID190955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78550164..78550215hg38UCSC Ensembl
chr8:79462399..79462450hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012930
Samples
Known GenesPKIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411649
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