A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960767



Internal ID19686021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55239131..55241488hg38UCSC Ensembl
chr18:52906362..52908719hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382358
hg192358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4271490
Supporting Variants
Samples
Known GenesTCF4
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)nssv15960767
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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