A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15901289



Internal ID19626543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95492188..95492793hg38UCSC Ensembl
chr5:94827892..94828497hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522961
Supporting Variants
Samples
Known GenesTTC37
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)nssv15901289
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.018026


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