A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705264



Internal ID21731585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59566043..59566043hg38UCSC Ensembl
chr17:57643404..57643404hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200362, nssv17230924
Samples
Known GenesDHX40
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)nsv5705264
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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