A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692975



Internal ID21719296
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 StatusM
Merged Variants
Supporting Variantsnssv17211486, nssv17227532
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)nsv5692975
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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