A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258310



Internal ID20103223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44709950..44711103hg38UCSC Ensembl
chr17:42787318..42788471hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833846
Samples
Known GenesDBF4B
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)nsv4258310
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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