A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690220



Internal ID21716541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22092136..22092136hg38UCSC Ensembl
chr7:22131754..22131754hg19UCSC Ensembl
Cytoband7p15.3
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 Variantsnssv17181623, nssv17230991
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)nsv5690220
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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