A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522576



Internal ID298840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48773041..48773091hg38UCSC Ensembl
chr17:46850403..46850453hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724598
Samples
Known GenesTTLL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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