A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17218933



Internal ID21666442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103111545..103111545hg38UCSC Ensembl
chr12:103505323..103505323hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706092
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)nssv17218933
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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