A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255282



Internal ID22253031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11020515..11110716hg38UCSC Ensembl
Outerchr12:11173114..11263315hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3833849
hg1933849
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237845
Supporting Variants
SamplesNA19238
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)nssv14255282
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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