A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424094



Internal ID203096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22976599..22976628hg38UCSC Ensembl
chr15:22896440..22896469hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700763
Samples
Known GenesCYFIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424094
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