A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15919081



Internal ID19991021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35181266..35184611hg38UCSC Ensembl
chr7:35220878..35224223hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg383346
hg193346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4140804
Supporting Variants
Samples
Known GenesDPY19L2P1
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)nssv15919081
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000553


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