A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15887581



Internal ID19959521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196484308..196493651hg38UCSC Ensembl
chr3:196211179..196220522hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg389344
hg199344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4095398
Supporting Variants
Samples
Known GenesRNF168
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)nssv15887581
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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