A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706240



Internal ID21732561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40139271..40139271hg38UCSC Ensembl
chr17:38295524..38295524hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198347, nssv17220820
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)nsv5706240
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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