A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228339



Internal ID22370556
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256342
SamplesHG00731
Known GenesTRHDE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228339
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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