A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212638



Internal ID22359819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55092462..55103672hg38UCSC Ensembl
Outerchr19:55603830..55615040hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3811211
hg1911211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263570, nssv14263566, nssv14263569, nssv14263567, nssv14263565, nssv14263568
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesPPP1R12C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212638
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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