A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17176241



Internal ID21623750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68915384..68915384hg38UCSC Ensembl
chr5:68211211..68211211hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688579
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)nssv17176241
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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