A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4114151



Internal ID20000806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177065494..177093898hg38UCSC Ensembl
chr5:176492495..176520899hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3828405
hg1928405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975335
Samples
Known GenesFGFR4, ZNF346
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)nsv4114151
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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