A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964725



Internal ID20036668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236437271..236623720hg38UCSC Ensembl
chr1:236600571..236787020hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38186450
hg19186450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4055056
Supporting Variants
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
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)nssv15964725
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000922


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