A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15921879



Internal ID19647133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96144710..96146431hg38UCSC Ensembl
chr7:95774022..95775743hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381722
hg191722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4161432
Supporting Variants
Samples
Known GenesSLC25A13
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)nssv15921879
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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