A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4517756



Internal ID20247875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205938641..205939451hg38UCSC Ensembl
chr1:205907769..205908579hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15847583
Samples
Known GenesSLC26A9
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)nsv4517756
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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