A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6034585



Internal ID21943928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80613737..80613798hg38UCSC Ensembl
chr17:78587537..78587598hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17627403
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6034585
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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