A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557714



Internal ID22426519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14841725..14841725hg38UCSC Ensembl
chr11:14863271..14863271hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380699, nssv14414370
SamplesNA19240, HG00514
Known GenesPDE3B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557714
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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