A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805560



Internal ID19877646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2271111..2277917hg38UCSC Ensembl
chr12:2380277..2387083hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386807
hg196807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4195450
Supporting Variants
Samples
Known GenesCACNA1C, CACNA1C-IT3
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15805560
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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