A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4185133



Internal ID20398436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:15244148..15287088hg38UCSC Ensembl
chr10:15286147..15329087hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3842941
hg1942941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947273
Samples
Known GenesFAM171A1
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)nsv4185133
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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