A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547280



Internal ID22416255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143193282..143193282hg38UCSC Ensembl
chr8:144274699..144274699hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384529
hg194529
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402952
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)nsv3547280
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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