A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707651



Internal ID21733972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49536466..49536466hg38UCSC Ensembl
chr13:50110602..50110602hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222562, nssv17193532
Samples
Known GenesRCBTB1
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)nsv5707651
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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