A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16291665



Internal ID20500883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80896358..80896430hg38UCSC Ensembl
chr17:78870158..78870230hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4732347
Supporting Variants
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16291665
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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