A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715417



Internal ID21741738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72754709..72754709hg38UCSC Ensembl
chr13:73328847..73328847hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240416
Samples
Known GenesBORA
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)nsv5715417
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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