A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178990



Internal ID21626499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132252184..132252184hg38UCSC Ensembl
chr5:131587877..131587877hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685437
Supporting Variants
Samples
Known Genes
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)nssv17178990
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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