A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15810566



Internal ID19535966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49867896..49868548hg38UCSC Ensembl
chr12:50261679..50262331hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4209793
Supporting Variants
Samples
Known GenesFAIM2
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)nssv15810566
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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