A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4343265



Internal ID20187838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120816893..121691318hg38UCSC Ensembl
chr9:123579171..124453597hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38874426
hg19874427
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791664
Samples
Known GenesC5, CNTRL, DAB2IP, GGTA1P, GSN, GSN-AS1, PHF19, PSMD5, PSMD5-AS1, RAB14, STOM, TRAF1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4343265
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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