A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17211486



Internal ID21658995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:159229298..159229298hg38UCSC Ensembl
chr3:158947087..158947087hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692975
Supporting Variants
Samples
Known GenesIQCJ, IQCJ-SCHIP1
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)nssv17211486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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