A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517733



Internal ID294147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48807000..48815980hg38UCSC Ensembl
chr17:46884362..46893342hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg388981
hg198981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724602
Samples
Known GenesTTLL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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