A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688218



Internal ID21714539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32580944..32580944hg38UCSC Ensembl
chr7:32620556..32620556hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181717
Samples
Known GenesAVL9, DPY19L1P1
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)nsv5688218
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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