A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4190919



Internal ID20055897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17118296..17202316hg38UCSC Ensembl
chr9:17118294..17202314hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3884021
hg1984021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15935009
Samples
Known GenesCNTLN
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)nsv4190919
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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