A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15849585



Internal ID19574912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28366822..28376647hg38UCSC Ensembl
chr1:28693333..28703158hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg389826
hg199826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4049328
Supporting Variants
Samples
Known GenesPHACTR4
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)nssv15849585
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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