A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974572



Internal ID19699826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4831501..4893023hg38UCSC Ensembl
chr4:4833228..4894750hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3861523
hg1961523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4110969
Supporting Variants
Samples
Known GenesMSX1
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)nssv15974572
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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