A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679321



Internal ID21705642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157180292..157180292hg38UCSC Ensembl
chr6:157501426..157501426hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227897, nssv17181198
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)nsv5679321
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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