A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688104



Internal ID21714425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157023189..157023189hg38UCSC Ensembl
chr6:157344323..157344323hg19UCSC Ensembl
Cytoband6q25.3
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 Variantsnssv17181196, nssv17227179
Samples
Known GenesARID1B
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5688104
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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