A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959523



Internal ID20031463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44359802..44361671hg38UCSC Ensembl
chr17:42437170..42439039hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381870
hg191870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4261745
Supporting Variants
Samples
Known GenesFAM171A2
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)nssv15959523
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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