A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246331



Internal ID22050941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93518197..93518197hg38UCSC Ensembl
chr8:94530425..94530425hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839280
Samples
Known GenesLINC00535
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246331
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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