A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4057225



Internal ID19834335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244433134..244490124hg38UCSC Ensembl
chr1:244596436..244653426hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3856991
hg1956991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15849797
Samples
Known GenesADSS, C1orf101
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 ID12345678
Accession Number(s)nsv4057225
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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