A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249036



Internal ID20443554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28828115..28828905hg38UCSC Ensembl
chr17:27155133..27155923hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833757
Samples
Known GenesFAM222B
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)nsv4249036
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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