A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692499



Internal ID21718820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:145932501..145932501hg38UCSC Ensembl
chr5:145312064..145312064hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179267
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)nsv5692499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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