A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725340



Internal ID21751661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60913127..60913127hg38UCSC Ensembl
chr15:61205326..61205326hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240119
Samples
Known GenesRORA
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5725340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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