A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684003



Internal ID21710324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206555568..206555568hg38UCSC Ensembl
chr2:207420292..207420292hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226928
Samples
Known GenesADAM23
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)nsv5684003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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