A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4169902



Internal ID20387583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14362656..14513879hg38UCSC Ensembl
chr8:14220165..14371388hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38151224
hg19151224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2552n166
Supporting Variantsnssv15927550
Samples
Known GenesSGCZ
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)nsv4169902
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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