A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4265745



Internal ID20455094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49150433..49156835hg38UCSC Ensembl
chr17:47227795..47234197hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386403
hg196403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15835585
Samples
Known GenesB4GALNT2
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)nsv4265745
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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