A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4057835



Internal ID19834762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86871284..86872661hg38UCSC Ensembl
chr1:87336967..87338344hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381378
hg191378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15853563
Samples
Known GenesSEP15
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)nsv4057835
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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