A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4062998



Internal ID20309843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162104523..162394594hg38UCSC Ensembl
chr1:162074313..162364384hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38290072
hg19290072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962793
Samples
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP
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)nsv4062998
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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