A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722104



Internal ID21748425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108237920..108237920hg38UCSC Ensembl
chr11:108108647..108108647hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250930
Samples
Known GenesATM
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)nsv5722104
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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