A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244582



Internal ID20440544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5021294..5021407hg38UCSC Ensembl
chr17:4924589..4924702hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959189
Samples
Known GenesKIF1C
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 ID32461652
Accession Number(s)nsv4244582
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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