A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217493



Internal ID21665002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12706193..12706193hg38UCSC Ensembl
chr6:12706425..12706425hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682555
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)nssv17217493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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