A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4053807



Internal ID19831856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215617165..215663866hg38UCSC Ensembl
chr1:215790507..215837208hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3846702
hg1946702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964571
Samples
Known GenesKCTD3, USH2A
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)nsv4053807
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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