A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237549



Internal ID22373901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41540068..41585645hg38UCSC Ensembl
Outerchr13:42114204..42159781hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256678, nssv14256672, nssv14256675, nssv14256676, nssv14256674, nssv14256670, nssv14256671, nssv14256673, nssv14256677
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR5006, VWA8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237549
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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