A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680229



Internal ID21706550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160149812..160149812hg38UCSC Ensembl
chr6:160570844..160570844hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181234
Samples
Known GenesSLC22A1
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)nsv5680229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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