A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15925278



Internal ID19650532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143361393..143363461hg38UCSC Ensembl
chr7:143058486..143060554hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382069
hg192069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4172327
Supporting Variants
Samples
Known GenesFAM131B
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)nssv15925278
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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