A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712372



Internal ID21738693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36322298..36322298hg38UCSC Ensembl
chr21:37694596..37694596hg19UCSC Ensembl
Cytoband21q22.12
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 Variantsnssv17215614, nssv17204388
Samples
Known GenesMORC3
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)nsv5712372
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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