A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231147



Internal ID22372149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1529944..1574710hg38UCSC Ensembl
Outerchr12:1639110..1683876hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1680n152
Supporting Variantsnssv14255623, nssv14255624
SamplesHG00512, NA19238
Known GenesFBXL14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231147
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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