A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187332



Internal ID21634841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:108131559..108131559hg38UCSC Ensembl
chr9:110893839..110893839hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709833
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)nssv17187332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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