A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15851707



Internal ID19576987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27899750..27905307hg38UCSC Ensembl
chr1:28226261..28231818hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg385558
hg195558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4042530
Supporting Variants
Samples
Known GenesRPA2
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)nssv15851707
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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