A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680163



Internal ID21706484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135667098..135667098hg38UCSC Ensembl
chr2:136424668..136424668hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215087
Samples
Known GenesR3HDM1
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)nsv5680163
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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