A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230158



Internal ID22371773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:98562969..98570785hg38UCSC Ensembl
Outerchr12:98956747..98964563hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387817
hg197817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1969n152
Supporting Variantsnssv14256355, nssv14256354, nssv14256356
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230158
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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