A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687509



Internal ID21713830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99845329..99845329hg38UCSC Ensembl
chr3:99564173..99564173hg19UCSC Ensembl
Cytoband3q12.1
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 Variantsnssv17230395
Samples
Known GenesCMSS1, FILIP1L, MIR548G
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)nsv5687509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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