A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17465062



Internal ID22522951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94712761..94715112hg38UCSC Ensembl
chr13:95365015..95367366hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg382352
hg192352
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5851610
Supporting Variants
Samples
Known GenesSOX21-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17465062
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