A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4123267



Internal ID20007191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149999437..150046637hg38UCSC Ensembl
chr5:149379000..149426200hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3847201
hg1947201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904303
Samples
Known GenesHMGXB3, TIGD6
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)nsv4123267
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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