A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6112212



Internal ID22021447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20458474..20458474hg38UCSC Ensembl
chr20:20439118..20439118hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17620331
Samples
Known GenesRALGAPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6112212
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