A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040588



Internal ID21949931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63322077..63328296hg38UCSC Ensembl
chr20:61953429..61959648hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg386220
hg196220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17621523
Samples
Known GenesCOL20A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040588
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer