A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4044086



Internal ID20171629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45642535..45652146hg38UCSC Ensembl
chr1:46108207..46117818hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389612
hg199612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15852022
Samples
Known GenesGPBP1L1, RPS15AP10
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)nsv4044086
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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