A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697609



Internal ID21723930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70022730..70022730hg38UCSC Ensembl
chr17:68018871..68018871hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200007
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)nsv5697609
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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