A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213207



Internal ID22360222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55212089..55222769hg38UCSC Ensembl
Outerchr12:55605873..55616553hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3810681
hg1910681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254772
SamplesNA19239
Known GenesOR10A7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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