A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697648



Internal ID21723969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77296068..77296068hg38UCSC Ensembl
chr17:75292150..75292150hg19UCSC Ensembl
Cytoband17q25.2
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 Variantsnssv17200403
Samples
Known GenesSEPT9
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)nsv5697648
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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