A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951517



Internal ID20023457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:87123500..87224704hg38UCSC Ensembl
chr10:88883257..88984461hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38101205
hg19101205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4185010
Supporting Variants
Samples
Known GenesFAM35A
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)nssv15951517
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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