A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15847715



Internal ID19919770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198267014..198268224hg38UCSC Ensembl
chr1:198236144..198237354hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381211
hg191211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4056231
Supporting Variants
Samples
Known GenesNEK7
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)nssv15847715
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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