A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4048624



Internal ID19828180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65659539..65747045hg38UCSC Ensembl
chr9:70419000..70506535hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3887507
hg1987536
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15785788, nssv15785787, nssv15785792, nssv15785793, nssv15785789, nssv15785791, nssv15785790
Samples
Known GenesCBWD3, CBWD5, FOXD4L2, FOXD4L4
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)nsv4048624
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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