A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565479



Internal ID22434198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66116674..66116674hg38UCSC Ensembl
chr8:67028909..67028909hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342369, nssv14342370, nssv14342368
SamplesHG00512, NA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3565479
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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