A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243226



Internal ID22375509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3034813..3114292hg38UCSC Ensembl
Outerchr18:3034811..3114290hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383858
hg193858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262305, nssv14262308, nssv14262306, nssv14261813, nssv14262307, nssv14261811, nssv14262304, nssv14261812, nssv14262303
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMYOM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243226
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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