A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4159241



Internal ID20033114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6347992..6413314hg38UCSC Ensembl
chr8:6205513..6270835hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3865323
hg1965323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2534n166
Supporting Variantsnssv15927340
Samples
Known GenesLOC100287015, MCPH1
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)nsv4159241
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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