A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4516552



Internal ID20246671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203507401..203513864hg38UCSC Ensembl
chr1:203476529..203482992hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386464
hg196464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964088
Samples
Known GenesOPTC
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 ID32461652
Accession Number(s)nsv4516552
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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