A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15939122



Internal ID20011062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128128169..128132401hg38UCSC Ensembl
chr9:130890448..130894680hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg384233
hg194233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4173588
Supporting Variants
Samples
Known GenesPTGES2, PTGES2-AS1
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)nssv15939122
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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