A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728817



Internal ID21755138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:27059630..27059630hg38UCSC Ensembl
chr15:27304777..27304777hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381938
hg191938
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237128
Samples
Known GenesGABRG3
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)nsv5728817
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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