A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4088849



Internal ID20328741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:71070029..71076569hg38UCSC Ensembl
chr3:71119180..71125720hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg386541
hg196541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972641
Samples
Known GenesFOXP1
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)nsv4088849
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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