A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947474



Internal ID19672728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70500928..70500993hg38UCSC Ensembl
chr11:70347033..70347098hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4528690
Supporting Variants
Samples
Known GenesSHANK2
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)nssv15947474
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.033429


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