A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244354



Internal ID20093710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8202867..8297966hg38UCSC Ensembl
chr17:8106185..8201284hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3895100
hg1995100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959264
Samples
Known GenesAURKB, CTC1, LINC00324, PFAS, RANGRF, SLC25A35
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)nsv4244354
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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