A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376654



Internal ID22602323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40808646..40808818hg38UCSC Ensembl
chr13:41382782..41382954hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943981
Supporting Variants
Samples
Known GenesSLC25A15, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376654
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009


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