A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17177467



Internal ID21624976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135593255..135593255hg38UCSC Ensembl
chr5:134928945..134928945hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5691882
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)nssv17177467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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