A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676045



Internal ID21702366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175365144..175365144hg38UCSC Ensembl
chr5:174792147..174792147hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231786, nssv17179425
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)nsv5676045
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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