A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212871



Internal ID22359989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71958189..71999171hg38UCSC Ensembl
Outerchr12:72351969..72392951hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3840983
hg1940983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254669, nssv14254670, nssv14254664, nssv14254667, nssv14254666, nssv14254671, nssv14254665, nssv14254668
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTPH2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212871
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer