A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052484



Internal ID21961717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207048650..207048650hg38UCSC Ensembl
chr1:207221995..207221995hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525087
Samples
Known GenesYOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052484
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