A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974659



Internal ID20046599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9139126..9675412hg38UCSC Ensembl
chr4:9140852..9677036hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38536287
hg19536185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4096742
Supporting Variants
Samples
Known GenesDEFB131, MIR548I2, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)nssv15974659
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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