A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217464



Internal ID22363113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110112584..110124555hg38UCSC Ensembl
Outerchr1:110655206..110667177hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382892
hg192892
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263405, nssv14263401, nssv14263403, nssv14263404, nssv14263402, nssv14263400, nssv14263398, nssv14263399
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesUBL4B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217464
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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