A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4056729



Internal ID19833957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118118060..118493576hg38UCSC Ensembl
chr1:118660683..119036199hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38375517
hg19375517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964329
Samples
Known GenesSPAG17
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)nsv4056729
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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