A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214458



Internal ID22361112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81353316..81444087hg38UCSC Ensembl
Outerchr12:81747095..81837866hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3890772
hg1990772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255784, nssv14255821, nssv14255785
SamplesHG00512, HG00732, HG00513
Known GenesPPFIA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214458
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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