A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15919105



Internal ID19991045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37426025..37428892hg38UCSC Ensembl
chr7:37465628..37468495hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382868
hg192868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4132960
Supporting Variants
Samples
Known GenesELMO1
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)nssv15919105
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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