A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4261157



Internal ID20105213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64497882..64510882hg38UCSC Ensembl
chr17:62494000..62507000hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3813001
hg1913001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959645
Samples
Known GenesCEP95, DDX5, MIR3064, MIR5047
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)nsv4261157
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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