A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4246936



Internal ID20442117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85915383..85916087hg38UCSC Ensembl
chr16:85948989..85949693hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15832614
Samples
Known GenesIRF8
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)nsv4246936
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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