A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720684



Internal ID21747005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90389741..90389741hg38UCSC Ensembl
chr7:90019055..90019055hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235425
Samples
Known GenesGTPBP10
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)nsv5720684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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