A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15802147



Internal ID19874233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33023195..33034573hg38UCSC Ensembl
chr11:33044741..33056119hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3811379
hg1911379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4196840
Supporting Variants
Samples
Known GenesDEPDC7
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)nssv15802147
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00005


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