A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249957



Internal ID20444156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28594944..28597612hg38UCSC Ensembl
chr17:26921962..26924630hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382669
hg192669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833742
Samples
Known GenesSPAG5
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)nsv4249957
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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