A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482212



Internal ID259670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91203703..91208198hg38UCSC Ensembl
chr8:92215931..92220426hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg384496
hg194496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015556
Samples
Known GenesLRRC69, MIR4661
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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