A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797574



Internal ID19522974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103105803..103106587hg38UCSC Ensembl
chr10:104865560..104866344hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4528451
Supporting Variants
Samples
Known GenesNT5C2
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)nssv15797574
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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