A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17197784



Internal ID21645293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49138294..49138294hg38UCSC Ensembl
chr15:49430491..49430491hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710193
Supporting Variants
Samples
Known GenesCOPS2
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)nssv17197784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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