A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241781



Internal ID22375065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:49729756..49754249hg38UCSC Ensembl
Outerchr10:50937802..50962295hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381161
hg191161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253145, nssv14253147, nssv14253148, nssv14253149, nssv14253150, nssv14253143, nssv14253144, nssv14253146, nssv14253151
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesOGDHL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241781
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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