A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256806



Internal ID20102156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55285128..55285286hg38UCSC Ensembl
chr19:55796496..55796654hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962400
Samples
Known GenesBRSK1
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)nsv4256806
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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