A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519218



Internal ID295571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28725346..28725484hg38UCSC Ensembl
chr17:27052364..27052502hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712376
Samples
Known GenesTLCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519218
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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