A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049749



Internal ID21958982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97545350..97545350hg38UCSC Ensembl
chr1:98010906..98010906hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531977
Samples
Known GenesDPYD
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049749
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