A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163573



Internal ID20036252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28922309..29201506hg38UCSC Ensembl
chr8:28779826..29059023hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38279198
hg19279198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15929102
Samples
Known GenesHMBOX1, KIF13B
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)nsv4163573
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer