A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342368



Internal ID22128159
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565479
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342368
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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