A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249586



Internal ID20443918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35837444..35839617hg38UCSC Ensembl
chr17:34164448..34166621hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382174
hg192174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833045
Samples
Known GenesTAF15
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)nsv4249586
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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