A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4071845



Internal ID20316240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217695658..217702658hg38UCSC Ensembl
chr1:217869000..217876000hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15846948
Samples
Known GenesSPATA17
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)nsv4071845
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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