A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721143



Internal ID21747464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75112453..75112453hg38UCSC Ensembl
chr9:77727369..77727369hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245860, nssv17240907
Samples
Known GenesOSTF1
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)nsv5721143
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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