A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246561



Internal ID22051171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116739105..116739105hg38UCSC Ensembl
chr8:117751344..117751344hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840038
Samples
Known GenesEIF3H
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246561
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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