A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17182212



Internal ID21629721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96053611..96053611hg38UCSC Ensembl
chr7:95682923..95682923hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677284
Supporting Variants
Samples
Known GenesDYNC1I1
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)nssv17182212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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