A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255656



Internal ID22131472
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243031
Supporting Variants
SamplesHG00513
Known GenesCACNA1C, CACNA1C-AS4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255656
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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