A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255790



Internal ID22117766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81705229..81741256hg38UCSC Ensembl
Outerchr12:82099008..82135035hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3836028
hg1936028
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226406
Supporting Variants
SamplesHG00512
Known GenesPPFIA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255790
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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