A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15854214



Internal ID19926154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89250791..89261406hg38UCSC Ensembl
chr1:89716474..89727089hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3810616
hg1910616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4066395
Supporting Variants
Samples
Known GenesGBP5
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)nssv15854214
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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