A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949663



Internal ID19674917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36507885..36520329hg38UCSC Ensembl
chr11:36529435..36541879hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3812445
hg1912445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4206154
Supporting Variants
Samples
Known GenesTRAF6
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)nssv15949663
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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