A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15851776



Internal ID19923741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71625832..71672362hg38UCSC Ensembl
chr1:72091515..72138045hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3846531
hg1946531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4045963
Supporting Variants
Samples
Known GenesNEGR1
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)nssv15851776
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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