A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240178



Internal ID22374627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143988022..144032241hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38761
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279945, nssv14279940, nssv14279941, nssv14279939, nssv14279943, nssv14279942, nssv14279944
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240178
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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