A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221365



Internal ID22365779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:15948524..15999986hg38UCSC Ensembl
Outerchr12:16101458..16152920hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3851463
hg1951463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255343, nssv14254853
SamplesHG00512, HG00514
Known GenesDERA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221365
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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