A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4246058



Internal ID20094829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2331706..2408706hg38UCSC Ensembl
chr17:2235000..2312000hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3877001
hg1977001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959168
Samples
Known GenesLOC284009, MNT, SGSM2, TSR1
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)nsv4246058
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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