A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17173823



Internal ID21621332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86868727..86868727hg38UCSC Ensembl
chr1:87334410..87334410hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689296
Supporting Variants
Samples
Known GenesSEP15
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)nssv17173823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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