A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15793839



Internal ID19519236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47987500..47995567hg38UCSC Ensembl
chr10:49195536..49203600hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg388068
hg198065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4189667
Supporting Variants
Samples
Known GenesFAM25C, FAM25G
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)nssv15793839
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.016269


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