A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728485



Internal ID21754806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14626146..14626146hg38UCSC Ensembl
chr11:14647692..14647692hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236779, nssv17245484
Samples
Known GenesPSMA1
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)nsv5728485
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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