A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517196



Internal ID293622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50043286..50043357hg38UCSC Ensembl
chr18:47569656..47569727hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718095
Samples
Known GenesMYO5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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