A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962747



Internal ID19688001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159075478..159075573hg38UCSC Ensembl
chr1:159045268..159045363hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4055241
Supporting Variants
Samples
Known GenesAIM2
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)nssv15962747
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000369


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