A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4203928



Internal ID20412011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35412163..35422463hg38UCSC Ensembl
chr11:35433710..35444010hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3810301
hg1910301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946626
Samples
Known GenesSLC1A2
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)nsv4203928
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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