A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6594091



Internal ID20967162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80563575..80564080hg38UCSC Ensembl
chr17:78537375..78537880hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18243893
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6594091
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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