A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4055121



Internal ID19832824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244411343..244650869hg38UCSC Ensembl
chr1:244574645..244814171hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38239527
hg19239527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv193n166
Supporting Variantsnssv15962971
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)nsv4055121
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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