A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695823



Internal ID21722144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29541596..29541596hg38UCSC Ensembl
chr21:30913917..30913917hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224030
Samples
Known GenesGRIK1
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)nsv5695823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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