A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230824



Internal ID22372038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36045707..36072474hg38UCSC Ensembl
Outerchr11:36067257..36094024hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254129, nssv14254125, nssv14254123, nssv14254128, nssv14254127, nssv14254130, nssv14254126, nssv14254124, nssv14254131
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLDLRAD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230824
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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