A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255232



Internal ID22117508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7081263..7094076hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3812814
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211256
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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