A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4057526



Internal ID20181152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161586810..161649160hg38UCSC Ensembl
chr1:161556600..161618950hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3862351
hg1962351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962788
Samples
Known GenesFCGR2C, FCGR3B, HSPA7
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)nsv4057526
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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