A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4071901



Internal ID19969593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205731643..205732614hg38UCSC Ensembl
chr1:205700771..205701742hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964116
Samples
Known GenesNUCKS1
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)nsv4071901
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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