A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248132



Internal ID22342762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2511490..2551916hg38UCSC Ensembl
Outerchr12:2620656..2661082hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382542
hg192542
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256163, nssv14256162, nssv14256160, nssv14256159, nssv14256161, nssv14256157, nssv14256158
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCACNA1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248132
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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