A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951187



Internal ID19676441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38697391..38700284hg38UCSC Ensembl
chr13:39271528..39274421hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382894
hg192894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4221938
Supporting Variants
Samples
Known GenesFREM2
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 ID12345678
Accession Number(s)nssv15951187
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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