A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688783



Internal ID21715104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76049923..76049923hg38UCSC Ensembl
chr1:76515608..76515608hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217293, nssv17206575
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)nsv5688783
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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