A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4076630



Internal ID20319770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201198835..201212214hg38UCSC Ensembl
chr2:202063558..202076937hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3813380
hg1913380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15874491
Samples
Known GenesCASP10
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)nsv4076630
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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