A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17181513



Internal ID21629022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161489605..161489605hg38UCSC Ensembl
chr1:161459395..161459395hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675774
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)nssv17181513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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