A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4176802



Internal ID20392503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125185933..125192795hg38UCSC Ensembl
chr9:127948212..127955074hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386863
hg196863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15939011
Samples
Known GenesPPP6C
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)nsv4176802
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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