A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4139495



Internal ID20018787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36943962..37027871hg38UCSC Ensembl
chr7:36983567..37067476hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3883910
hg1983910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979914
Samples
Known GenesELMO1, ELMO1-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)nsv4139495
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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