A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405434



Internal ID184778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94258368..94258419hg38UCSC Ensembl
chr8:95270596..95270647hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014549
Samples
Known GenesGEM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405434
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