A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675066



Internal ID21701387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:122797353..122797353hg38UCSC Ensembl
chr6:123118498..123118498hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233061, nssv17181798
Samples
Known GenesSMPDL3A
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)nsv5675066
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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