A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211398



Internal ID22358969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:15991796..16022886hg38UCSC Ensembl
Outerchr12:16144730..16175820hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3831091
hg1931091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255345, nssv14255346
SamplesHG00512, HG00514
Known GenesDERA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211398
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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