A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938843



Internal ID22714229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78056907..78063883hg38UCSC Ensembl
chr13:78631042..78638018hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg386977
hg196977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373236
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938843
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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