A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554023



Internal ID22422891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26122912..26122912hg38UCSC Ensembl
chr13:26697050..26697050hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375997
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)nsv3554023
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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