A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4172281



Internal ID20389292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:36890419..36902475hg38UCSC Ensembl
chr8:36747937..36759993hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3812057
hg1912057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15930438
Samples
Known GenesKCNU1
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)nsv4172281
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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