A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384511



Internal ID22326928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145291314..145291314hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3838879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541683
Supporting Variants
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)nssv14384511
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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