A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4240013



Internal ID20437561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27416037..27423900hg38UCSC Ensembl
chr17:25743063..25750926hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg387864
hg197864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15835461
Samples
Known GenesTBC1D3P5
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)nsv4240013
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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