A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900012



Internal ID19971952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:19329900..20071993hg38UCSC Ensembl
chr5:19330009..20072102hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38742094
hg19742094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4112704
Supporting Variants
Samples
Known GenesCDH18
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)nssv15900012
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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