A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523201



Internal ID20896562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80557793..80563364hg38UCSC Ensembl
chr17:78531593..78537164hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385572
hg195572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038481
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523201
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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