A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040321



Internal ID20169003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62425699..62565899hg38UCSC Ensembl
chr9:46737000..46877200hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38140201
hg19140201
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15785563, nssv15785560, nssv15785559, nssv15785558, nssv15785562, nssv15785561
Samples
Known GenesKGFLP1, LOC643648
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)nsv4040321
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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