A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453348



Internal ID22511222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75555096..75556245hg38UCSC Ensembl
chr13:76129232..76130381hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863722
Supporting Variants
Samples
Known GenesUCHL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453348
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