A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233071



Internal ID22372658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:63291087..63311499hg38UCSC Ensembl
Outerchr12:63684867..63705279hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1880n152
Supporting Variantsnssv14256496, nssv14256493, nssv14256491, nssv14256492, nssv14256494, nssv14256495
SamplesHG00512, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233071
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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