A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15856156



Internal ID19928096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109037475..109038795hg38UCSC Ensembl
chr1:109580097..109581417hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381321
hg191321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4067759
Supporting Variants
Samples
Known GenesWDR47
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)nssv15856156
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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