A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15847473



Internal ID19919534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229292666..229305050hg38UCSC Ensembl
chr1:229428413..229440797hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3812385
hg1912385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4065075
Supporting Variants
Samples
Known GenesRAB4A, SPHAR
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)nssv15847473
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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