A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4182152



Internal ID20396311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42182025..42187994hg38UCSC Ensembl
chr9:41323000..41329000hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg385970
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15933788
Samples
Known GenesSPATA31A4, SPATA31A5, SPATA31A7
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)nsv4182152
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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