A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17479486



Internal ID22537388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80553844..80560556hg38UCSC Ensembl
chr17:78527644..78534356hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg386713
hg196713
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877721
Supporting Variants
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17479486
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