A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953156



Internal ID19678410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55967466..55976466hg38UCSC Ensembl
chr12:56361250..56370250hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4207971
Supporting Variants
Samples
Known GenesCDK2, RAB5B
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)nssv15953156
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000656


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