A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4526605



Internal ID19910035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128194629..128195439hg38UCSC Ensembl
chr9:130956908..130957718hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15939128
Samples
Known GenesCIZ1
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 ID12345678
Accession Number(s)nsv4526605
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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