A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179442



Internal ID21626951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:22201062..22201062hg38UCSC Ensembl
chr6:22201291..22201291hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677018
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)nssv17179442
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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