A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245975



Internal ID22376290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79611125..79708271hg38UCSC Ensembl
Outerchr18:77371125..77468271hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384281
hg194281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262701, nssv14262702, nssv14262705, nssv14262703, nssv14262700, nssv14262704
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00514
Known GenesCTDP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245975
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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