A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714751



Internal ID21741072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:95171211..95171211hg38UCSC Ensembl
chr9:97933493..97933493hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248131
Samples
Known GenesFANCC
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)nsv5714751
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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