A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387214



Internal ID22445084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80630098..80640092hg38UCSC Ensembl
chr17:78603898..78613892hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389995
hg199995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946779
Supporting Variants
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387214
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012


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