A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15881505



Internal ID19953445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:109106548..109107766hg38UCSC Ensembl
chr3:108825395..108826613hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4078358
Supporting Variants
Samples
Known GenesMORC1
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)nssv15881505
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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