A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15841376



Internal ID19566776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63817764..66099664hg38UCSC Ensembl
chr18:61484998..63766900hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382281901
hg192281903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4532319
Supporting Variants
Samples
Known GenesCDH7, HMSD, LINC00305, LOC284294, LOC400654, SERPINB10, SERPINB2, SERPINB8
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)nssv15841376
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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