A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689873



Internal ID21716194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206691568..206691568hg38UCSC Ensembl
chr2:207556292..207556292hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218659
Samples
Known GenesDYTN
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)nsv5689873
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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