A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245212



Internal ID22376087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49609111..49619474hg38UCSC Ensembl
Outerchr12:50002894..50013257hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255865, nssv14255864, nssv14255869, nssv14255867, nssv14255863, nssv14255866, nssv14255868
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245212
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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