A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723998



Internal ID21750319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112845601..112845601hg38UCSC Ensembl
chr5:112181298..112181298hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242616, nssv17239867
Samples
Known GenesAPC
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)nsv5723998
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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