A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942590



Internal ID22718030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80830595..80830648hg38UCSC Ensembl
chr17:78804395..78804448hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382284
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942590
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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