A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686554



Internal ID21712875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207196925..207196925hg38UCSC Ensembl
chr2:208061649..208061649hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17206142, nssv17216374
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)nsv5686554
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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