A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247111



Internal ID22051721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58370194..58370194hg38UCSC Ensembl
chr10:60129954..60129954hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841888
Samples
Known GenesUBE2D1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247111
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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