A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217205



Internal ID20074885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77904610..77905318hg38UCSC Ensembl
chr13:78478745..78479453hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15816505
Samples
Known GenesEDNRB, EDNRB-AS1
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)nsv4217205
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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