A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691868



Internal ID21718189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148101877..148101877hg38UCSC Ensembl
chr6:148423013..148423013hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216812
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)nsv5691868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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