A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6084106



Internal ID21993339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80700637..80700637hg38UCSC Ensembl
chr17:78674437..78674437hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17632683
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6084106
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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