A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15812360



Internal ID19537760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107026022..107061099hg38UCSC Ensembl
chr12:107419800..107454877hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3835078
hg1935078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4214693
Supporting Variants
Samples
Known GenesCRY1
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)nssv15812360
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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