A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687291



Internal ID21713612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69852931..69852931hg38UCSC Ensembl
chr4:70718649..70718649hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212384, nssv17173361
Samples
Known GenesSULT1E1
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)nsv5687291
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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