A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985338



Internal ID21894681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10745359..10753538hg38UCSC Ensembl
chr2:10885485..10893664hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg388180
hg198180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536215
Samples
Known GenesATP6V1C2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985338
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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