A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961952



Internal ID19687206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110062578..110062636hg38UCSC Ensembl
chr1:110605200..110605258hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4069967
Supporting Variants
Samples
Known GenesALX3
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)nssv15961952
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005385


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