A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15778491



Internal ID19503754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11490..40940hg38UCSC Ensembl
chr12:64800..94250hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3829451
hg1929451
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4040549
Supporting Variants
Samples
Known GenesLOC100288778
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)nssv15778491
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.209182


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