A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715115



Internal ID21741436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10165911..10165911hg38UCSC Ensembl
chr12:10318510..10318510hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247309
Samples
Known GenesOLR1
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)nsv5715115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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