A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973539



Internal ID22748474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50094270..50094270hg38UCSC Ensembl
chr20:48710807..48710807hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400672
Samples
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973539
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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