A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215600



Internal ID22361873
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255248, nssv14255247
SamplesHG00512, NA19239
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)nsv3215600
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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