A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244341



Internal ID22048951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89592683..89592683hg38UCSC Ensembl
chr1:90058242..90058242hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17857662
Samples
Known GenesLRRC8B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244341
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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