A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4168935



Internal ID20040179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17156404..17184744hg38UCSC Ensembl
chr8:17013913..17042253hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3828341
hg1928341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15928794
Samples
Known GenesZDHHC2
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)nsv4168935
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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