A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240872



Internal ID22334055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78971516..79060989hg38UCSC Ensembl
Outerchr18:76731516..76820989hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3816110
hg1916110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262344, nssv14262662, nssv14262667, nssv14262664, nssv14262660, nssv14262343, nssv14262345, nssv14262661, nssv14262666, nssv14262663
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSALL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240872
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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