A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726641



Internal ID21752962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125547970..125547970hg38UCSC Ensembl
chr9:128310249..128310249hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17253012
Samples
Known GenesMAPKAP1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5726641
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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