A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691486



Internal ID21717807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12830092..12830092hg38UCSC Ensembl
chr6:12830324..12830324hg19UCSC 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 Variantsnssv17221457, nssv17177273
Samples
Known GenesPHACTR1
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)nsv5691486
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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