A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033500



Internal ID20164239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:60832928..60914378hg38UCSC Ensembl
chr9:41419200..41500650hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3881451
hg1981451
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15785164, nssv15785162, nssv15785163
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)nsv4033500
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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