A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217249



Internal ID21664758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5170228..5170228hg38UCSC Ensembl
chr20:5150874..5150874hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714328
Supporting Variants
Samples
Known GenesCDS2
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)nssv17217249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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