A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15848346



Internal ID19573708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213994767..213995312hg38UCSC Ensembl
chr1:214168110..214168655hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4516787
Supporting Variants
Samples
Known GenesPROX1
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 ID12345678
Accession Number(s)nssv15848346
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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