A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4233973



Internal ID20433447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4372227..4448194hg38UCSC Ensembl
chr16:4422228..4498195hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3875968
hg1975968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15827685
Samples
Known GenesCORO7, CORO7-PAM16, DNAJA3, VASN
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 ID32461652
Accession Number(s)nsv4233973
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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