A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221559



Internal ID22365903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95827927..95855241hg38UCSC Ensembl
Outerchr12:96221705..96249019hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3827315
hg1927315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255186, nssv14255184, nssv14255189, nssv14255188, nssv14255185, nssv14255187
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221559
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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