A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15905743



Internal ID19630997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175758688..175931025hg38UCSC Ensembl
chr5:175185691..175358028hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38172338
hg19172338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4131576
Supporting Variants
Samples
Known GenesCPLX2
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)nssv15905743
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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