A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6059075



Internal ID21968308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199851146..199851146hg38UCSC Ensembl
chr2:200715869..200715869hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520473
Samples
Known GenesFTCDNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6059075
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