A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974571



Internal ID19699825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4783374..5226266hg38UCSC Ensembl
chr4:4785101..5227993hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38442893
hg19442893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4106882
Supporting Variants
Samples
Known GenesCYTL1, MSX1, STK32B
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)nssv15974571
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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