A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985339



Internal ID21894682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10756629..10769491hg38UCSC Ensembl
chr2:10896755..10909617hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3812863
hg1912863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536703
Samples
Known GenesATP6V1C2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985339
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