A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928280



Internal ID22703517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80685133..80685200hg38UCSC Ensembl
chr17:78658933..78659000hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386870
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928280
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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