A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245054



Internal ID20440861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3725268..3853601hg38UCSC Ensembl
chr17:3628562..3756895hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38128334
hg19128334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958070
Samples
Known GenesC17orf85, GSG2, ITGAE
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)nsv4245054
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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