A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216773



Internal ID21664282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135109879..135109879hg38UCSC Ensembl
chr6:135431017..135431017hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685219
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)nssv17216773
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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