A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683017



Internal ID21709338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43262620..43262620hg38UCSC Ensembl
chr1:43728291..43728291hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211660
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)nsv5683017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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