A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693315



Internal ID21719636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23370914..23370914hg38UCSC Ensembl
chr1:23697407..23697407hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205704
Samples
Known GenesC1orf213
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)nsv5693315
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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