A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15835325



Internal ID19907411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69425375..69432609hg38UCSC Ensembl
chr17:67421516..67428750hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg387235
hg197235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4264321
Supporting Variants
Samples
Known GenesMAP2K6
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)nssv15835325
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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