A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227233



Internal ID22369793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:66126104..66156275hg38UCSC Ensembl
Outerchr12:66519884..66550055hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3830172
hg1930172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254646, nssv14254647, nssv14254648, nssv14254644, nssv14254643, nssv14254645, nssv14254641, nssv14254649, nssv14254642
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLLPH, TMBIM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227233
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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