A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034694



Internal ID20165092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27370284..27376901hg38UCSC Ensembl
chr1:27696775..27703393hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386618
hg196619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965460
Samples
Known GenesFCN3
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)nsv4034694
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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