A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696162



Internal ID21722483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41479657..41479657hg38UCSC Ensembl
chr9:42129716..42129716hg19UCSC Ensembl
Cytoband9p12
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 Variantsnssv17215742, nssv17185795
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)nsv5696162
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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