A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065547



Internal ID20311671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152836374..152881524hg38UCSC Ensembl
chr1:152808850..152854000hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3845151
hg1945151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963338
Samples
Known GenesLCE6A, SMCP
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)nsv4065547
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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