A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675228



Internal ID21701549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11613013..11613013hg38UCSC Ensembl
chr6:11613246..11613246hg19UCSC Ensembl
Cytoband6p24.1
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 Variantsnssv17177254
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)nsv5675228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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