A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4194839



Internal ID20058754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6273736..6364187hg38UCSC Ensembl
chr12:6382902..6473353hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3890452
hg1990452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951858
Samples
Known GenesPLEKHG6, SCNN1A, TNFRSF1A
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 ID12345678
Accession Number(s)nsv4194839
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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