A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980735



Internal ID20052675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13930573..13930932hg38UCSC Ensembl
chr7:13970198..13970557hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4146916
Supporting Variants
Samples
Known GenesETV1
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 ID32461652
Accession Number(s)nssv15980735
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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