A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722474



Internal ID21748795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12832893..12832893hg38UCSC Ensembl
chr11:12854440..12854440hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246929, nssv17251052
Samples
Known GenesTEAD1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722474
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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