A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706925



Internal ID21733246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61119161..61119161hg38UCSC Ensembl
chr17:59196522..59196522hg19UCSC Ensembl
Cytoband17q23.2
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 Variantsnssv17200383
Samples
Known GenesBCAS3
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)nsv5706925
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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