A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701424



Internal ID21727745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56621876..56621876hg38UCSC Ensembl
chr17:54699237..54699237hg19UCSC Ensembl
Cytoband17q22
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 Variantsnssv17225615, nssv17200323
Samples
Known Genes
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)nsv5701424
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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