A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15919293



Internal ID19991233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47870492..47871662hg38UCSC Ensembl
chr7:47910090..47911260hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381171
hg191171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4150274
Supporting Variants
Samples
Known GenesPKD1L1
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)nssv15919293
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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