A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722363



Internal ID21748684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58744117..58744117hg38UCSC Ensembl
chr10:60503877..60503877hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245720
Samples
Known GenesBICC1
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)nsv5722363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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