A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4190704



Internal ID20402433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:35254685..35382117hg38UCSC Ensembl
chr10:35543613..35671045hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38127433
hg19127433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957844
Samples
Known GenesCCNY
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)nsv4190704
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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