A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677606



Internal ID21703927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19229286..19229286hg38UCSC Ensembl
chr1:19555780..19555780hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180089
Samples
Known GenesEMC1
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)nsv5677606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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