A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038496



Internal ID20605536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80720768..80724562hg38UCSC Ensembl
chr17:78694568..78698362hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383795
hg193795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524859
Supporting Variants
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18038496
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01868


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