A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254542



Internal ID22059152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114071748..114071748hg38UCSC Ensembl
chr3:113790595..113790595hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854159
Samples
Known GenesQTRTD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254542
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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