A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675992



Internal ID21702313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138504986..138504986hg38UCSC Ensembl
chr2:139262556..139262556hg19UCSC Ensembl
Cytoband2q22.1
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 Variantsnssv17224410
Samples
Known GenesSPOPL
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)nsv5675992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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