A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693337



Internal ID21719658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123642940..123642940hg38UCSC Ensembl
chr7:123282994..123282994hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224584, nssv17183133
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)nsv5693337
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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