A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693991



Internal ID21720312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122933086..122933086hg38UCSC Ensembl
chr7:122573140..122573140hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213542, nssv17182306
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)nsv5693991
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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