A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228530



Internal ID22370690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:62283847..62342235hg38UCSC Ensembl
Outerchr12:62677628..62736016hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3858389
hg1958389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256339
SamplesHG00731
Known GenesUSP15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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