A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162707



Internal ID20035622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6495900..6558824hg38UCSC Ensembl
chr8:6353421..6416345hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3862925
hg1962925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15927359
Samples
Known GenesANGPT2, 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)nsv4162707
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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