A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173030



Internal ID20389825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111610355..111621362hg38UCSC Ensembl
chr9:114372635..114383642hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3811008
hg1911008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15938843
Samples
Known GenesLRRC37A5P
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)nsv4173030
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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