A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949813



Internal ID19675067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50700157..50781067hg38UCSC Ensembl
chr12:51093940..51174850hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3880911
hg1980911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204609
Supporting Variants
Samples
Known GenesATF1, DIP2B
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)nssv15949813
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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