A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4531110



Internal ID20261229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49148947..49151621hg38UCSC Ensembl
chr17:47226309..47228983hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382675
hg192675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv990n166
Supporting Variantsnssv15835582
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)nsv4531110
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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