A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371992



Internal ID22597661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49547875..49615336hg38UCSC Ensembl
chr13:50122011..50189472hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3867462
hg1967462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943994
Supporting Variants
Samples
Known GenesRCBTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371992
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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