A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245272



Internal ID20441011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28838029..28838309hg38UCSC Ensembl
chr17:27165047..27165327hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833758
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)nsv4245272
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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