A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251891



Internal ID20098749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35145762..35182294hg38UCSC Ensembl
chr17:33472781..33509313hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3836533
hg1936533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834373
Samples
Known GenesUNC45B
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)nsv4251891
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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