A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246011



Internal ID22376298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11018864..11103731hg38UCSC Ensembl
Outerchr12:11171463..11256330hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3811090
hg1911090
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1732n152
Supporting Variantsnssv14255997
SamplesHG00512
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, TAS2R43, TAS2R46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246011
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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