A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988522



Internal ID21897865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240805033..240805088hg38UCSC Ensembl
chr2:241744450..241744505hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536268
Samples
Known GenesKIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988522
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer