A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4063384



Internal ID20310138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247708498..247713598hg38UCSC Ensembl
chr1:247871800..247876900hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965224
Samples
Known GenesOR6F1
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)nsv4063384
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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