A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4106788



Internal ID19995411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54235683..54252833hg38UCSC Ensembl
chr4:55101850..55119000hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3817151
hg1917151
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974162, nssv15891044
Samples
Known GenesPDGFRA
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)nsv4106788
Frequency
Sample Size10847
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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