A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4110217



Internal ID19997941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:43469181..45042724hg38UCSC Ensembl
chr4:43471198..45044741hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381573544
hg191573544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974060
Samples
Known GenesGNPDA2, GUF1, KCTD8, YIPF7
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)nsv4110217
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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