A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256342



Internal ID22189876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:72417871..72467596hg38UCSC Ensembl
Outerchr12:72811651..72861376hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3849726
hg1949726
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228339
Supporting Variants
SamplesHG00731
Known GenesTRHDE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256342
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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