A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564943



Internal ID22433667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144356249..144356249hg38UCSC Ensembl
chr8:145579909..145579909hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14344423
SamplesHG00513
Known GenesFBXL6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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