A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974294



Internal ID19699548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:167102799..167414854hg38UCSC Ensembl
chr4:168023950..168336005hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38312056
hg19312056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094696
Supporting Variants
Samples
Known GenesSPOCK3
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)nssv15974294
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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