A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044505



Internal ID21953787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199922048..199922048hg38UCSC Ensembl
chr2:200786771..200786771hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522984
Samples
Known GenesC2orf69
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044505
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