A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1732n152



Internal ID22817435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11018864..11110716hg38UCSC Ensembl
chr12:11171463..11263315hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3891853
hg1991853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3237845, nsv3246011
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
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)dgv1732n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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