A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049065



Internal ID21958298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60575829..60575829hg38UCSC Ensembl
chr2:60802964..60802964hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382170
hg192170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526032
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049065
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