A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458473



Internal ID22516356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99203528..99232035hg38UCSC Ensembl
chr13:99855782..99884289hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3828508
hg1928508
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5865197
Supporting Variants
Samples
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458473
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