A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4196179



Internal ID20406403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44555287..44557707hg38UCSC Ensembl
chr12:44949070..44951490hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382421
hg192421
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949737
Samples
Known GenesNELL2
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)nsv4196179
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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