A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683145



Internal ID21709466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65004890..65004890hg38UCSC Ensembl
chr7:64465268..64465268hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182906
Samples
Known GenesERV3-1
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)nsv5683145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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