A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249952



Internal ID22377409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54202996..54223365hg38UCSC Ensembl
Outerchr12:54596780..54617149hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255888, nssv14255890, nssv14255886, nssv14255887, nssv14255891, nssv14255892, nssv14255893, nssv14255894, nssv14255889
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249952
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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