A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4248153



Internal ID20442952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31976954..31981966hg38UCSC Ensembl
chr17:30303973..30308985hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385013
hg195013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15835737
Samples
Known GenesSUZ12
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)nsv4248153
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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