A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4048557



Internal ID20174753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42327726..42449594hg38UCSC Ensembl
chr9:40991000..41113300hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38121869
hg19122301
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15785143, nssv15785144, nssv15785147, nssv15785146, nssv15785145
Samples
Known Genes
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 ID32461652
Accession Number(s)nsv4048557
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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