A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246044



Internal ID21693553
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 StatusS
Merged Variantsnsv5727271
Supporting Variants
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)nssv17246044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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