A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4057597



Internal ID20181205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207634655..207737655hg38UCSC Ensembl
chr1:207808000..207911000hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38103001
hg19103001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15846672
Samples
Known GenesCR1, CR1L
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)nsv4057597
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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