A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4268739



Internal ID20457197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64764461..64798154hg38UCSC Ensembl
chr17:62760579..62794272hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3833694
hg1933694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959649
Samples
Known GenesLOC146880, MIR6080, PLEKHM1P
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)nsv4268739
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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