A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229439



Internal ID22371293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168956800..168994257hg38UCSC Ensembl
Outerchr2:169813310..169850767hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381414
hg191414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265077, nssv14265072, nssv14265075, nssv14265076, nssv14265079, nssv14265073, nssv14265074, nssv14265078
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesABCB11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229439
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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