A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458680



Internal ID22516563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78339831..78351147hg38UCSC Ensembl
chr13:78913966..78925282hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3811317
hg1911317
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849300
Supporting Variants
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458680
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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