A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256328



Internal ID22200458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4962718..4974001hg38UCSC Ensembl
Outerchr12:5071884..5083167hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3811284
hg1911284
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210373
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256328
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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