A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558952



Internal ID22427757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715735..42715735hg38UCSC Ensembl
chr21:44135845..44135845hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395707
SamplesNA19240
Known GenesPDE9A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558952
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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