A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256111



Internal ID22200386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2506093..2522127hg38UCSC Ensembl
Outerchr12:2615259..2631293hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232930
Supporting Variants
SamplesHG00732
Known GenesCACNA1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256111
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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