A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787775



Internal ID19859804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56465119..56470340hg38UCSC Ensembl
chr12:56858903..56864124hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385222
hg195222
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4345299
Supporting Variants
Samples
Known GenesSPRYD4
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15787775
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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