A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215155



Internal ID22361581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:60112405..60140052hg38UCSC Ensembl
Outerchr12:60506186..60533833hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3827648
hg1927648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1870n152
Supporting Variantsnssv14256325, nssv14255780, nssv14255779
SamplesHG00512, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215155
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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