A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552939



Internal ID22421830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109694116..109694116hg38UCSC Ensembl
chr13:110346463..110346463hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374293
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3552939
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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