A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221369



Internal ID22365781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18177532..18206572hg38UCSC Ensembl
Outerchr12:18330466..18359506hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3829041
hg1929041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255250
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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