A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229533



Internal ID22371351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55314305..55340517hg38UCSC Ensembl
Outerchr12:55708089..55734301hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3826213
hg1926213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254778, nssv14254774, nssv14254777, nssv14254776, nssv14254775, nssv14254773
SamplesHG00512, NA19239, NA19240, HG00733, HG00513, HG00514
Known GenesOR6C1, OR6C3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229533
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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