A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716290



Internal ID21742611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:7352029..7352029hg38UCSC Ensembl
chr10:7393991..7393991hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg386008
hg196008
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235393
Samples
Known GenesSFMBT2
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)nsv5716290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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