A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4189860



Internal ID20401830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:74086765..74089718hg38UCSC Ensembl
chr9:76701681..76704634hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382954
hg192954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15936063
Samples
Known GenesMIR6130
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)nsv4189860
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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