A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6105454



Internal ID22014687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62832674..62832674hg38UCSC Ensembl
chr20:61464026..61464026hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633364
Samples
Known GenesCOL9A3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6105454
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