A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721362



Internal ID21747683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111304552..111304552hg38UCSC Ensembl
chr11:111175277..111175277hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240175
Samples
Known GenesCOLCA2
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)nsv5721362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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