A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15885985



Internal ID19611239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5333272..5778273hg38UCSC Ensembl
chr4:5334999..5780000hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38445002
hg19445002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521683
Supporting Variants
Samples
Known GenesC4orf6, EVC, EVC2, STK32B
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)nssv15885985
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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