A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693566



Internal ID21719887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139936784..139936784hg38UCSC Ensembl
chr5:139316369..139316369hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177504
Samples
Known GenesNRG2
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)nsv5693566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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