A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833894



Internal ID19559294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47264707..47264831hg38UCSC Ensembl
chr17:45342073..45342197hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4266659
Supporting Variants
Samples
Known GenesITGB3
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 ID12345678
Accession Number(s)nssv15833894
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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