A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4175910



Internal ID20391880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:20551390..20584655hg38UCSC Ensembl
chr9:20551389..20584654hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3833266
hg1933266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15935696
Samples
Known GenesMLLT3
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)nsv4175910
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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