A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049949



Internal ID21959182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241767010..241767010hg38UCSC Ensembl
chr2:242706425..242706425hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519451
Samples
Known GenesD2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049949
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