A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243031



Internal ID22375450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2214485..2226800hg38UCSC Ensembl
Outerchr12:2323651..2335966hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381378
hg191378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255655, nssv14255658, nssv14255656, nssv14255657, nssv14255659, nssv14255660, nssv14255661, nssv14255662
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCACNA1C, CACNA1C-AS4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243031
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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