A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230363



Internal ID22371911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42896335..42896393hg38UCSC Ensembl
chr22:43292341..43292399hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14453417, nssv14409827
SamplesNA19240, HG00733
Known GenesPACSIN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230363
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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