A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489282



Internal ID266571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98001748..98001829hg38UCSC Ensembl
chr8:99013976..99014057hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014197
Samples
Known GenesMATN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489282
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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