A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4175136



Internal ID20391317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59359139..59367908hg38UCSC Ensembl
chr10:61118899..61127666hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg388770
hg198768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15795377
Samples
Known GenesFAM13C
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)nsv4175136
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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