A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4561187



Internal ID19944386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52923485..52923486hg38UCSC Ensembl
chr4:53789652..53789653hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16052386
Samples
Known GenesSCFD2
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)nsv4561187
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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