A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255247



Internal ID22117514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11020515..11110716hg38UCSC Ensembl
Outerchr12:11173114..11263315hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3890202
hg1990202
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215600
Supporting Variants
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)nssv14255247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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