A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701551



Internal ID21727872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51038031..51038031hg38UCSC Ensembl
chr13:51612167..51612167hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194497
Samples
Known GenesGUCY1B2
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)nsv5701551
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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