A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17176351



Internal ID21623860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93190527..93190527hg38UCSC Ensembl
chr5:92526233..92526233hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685545
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)nssv17176351
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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