A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951478



Internal ID19676732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73250140..73256853hg38UCSC Ensembl
chr10:75009898..75016611hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg386714
hg196714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4175424
Supporting Variants
Samples
Known GenesDNAJC9-AS1, MRPS16, TTC18
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)nssv15951478
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000738


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