A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271625



Internal ID20459229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63560351..63560627hg38UCSC Ensembl
chr17:61637712..61637988hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15837189
Samples
Known GenesDCAF7
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)nsv4271625
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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