A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552228



Internal ID22421125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43416191..43416191hg38UCSC Ensembl
chr13:43990327..43990327hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374381, nssv14444327
SamplesNA19240, HG00733
Known GenesENOX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3552228
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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