A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699046



Internal ID21725367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43674612..43674612hg38UCSC Ensembl
chr21:45094493..45094493hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17201064
Samples
Known GenesRRP1B
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)nsv5699046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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