A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722143



Internal ID21748464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6688292..6688292hg38UCSC Ensembl
chr11:6709523..6709523hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242776
Samples
Known Genes
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)nsv5722143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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