A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255787



Internal ID22144686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81705229..81752388hg38UCSC Ensembl
Outerchr12:82099008..82146167hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3847160
hg1947160
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214221
Supporting Variants
SamplesHG00514
Known GenesPPFIA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255787
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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