A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727271



Internal ID21753592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:62089939..62089939hg38UCSC Ensembl
chr10:63849698..63849698hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg383185
hg193185
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234651, nssv17246044
Samples
Known GenesARID5B
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)nsv5727271
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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