A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15848739



Internal ID19920771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21284095..21287269hg38UCSC Ensembl
chr1:21610588..21613762hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383175
hg193175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4045597
Supporting Variants
Samples
Known GenesECE1
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)nssv15848739
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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