A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682485



Internal ID21708806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99240057..99240057hg38UCSC Ensembl
chr7:98837680..98837680hg19UCSC Ensembl
Cytoband7q22.1
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 Variantsnssv17183039, nssv17220921
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)nsv5682485
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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