A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17222326



Internal ID21669835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:165150070..165150070hg38UCSC Ensembl
chr5:164577076..164577076hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690602
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)nssv17222326
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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