A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251500



Internal ID22056110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50102354..50102354hg38UCSC Ensembl
chr20:48718891..48718891hg19UCSC Ensembl
Cytoband20q13.13
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 Variantsnssv17850605
Samples
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251500
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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