A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15850387



Internal ID19575697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37692805..37692902hg38UCSC Ensembl
chr1:38158477..38158574hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518273
Supporting Variants
Samples
Known GenesCDCA8
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)nssv15850387
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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