A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709789



Internal ID21736110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125670522..125670522hg38UCSC Ensembl
chr9:128432801..128432801hg19UCSC Ensembl
Cytoband9q33.3
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 Variantsnssv17187860
Samples
Known GenesMAPKAP1
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)nsv5709789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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