A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4174636



Internal ID20044278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96508131..96510775hg38UCSC Ensembl
chr9:99270413..99273057hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg382645
hg192645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15935941
Samples
Known GenesCDC14B
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)nsv4174636
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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