A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052183



Internal ID19830682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71521317..71888317hg38UCSC Ensembl
chr1:71987000..72354000hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38367001
hg19367001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15851768
Samples
Known GenesNEGR1, NEGR1-IT1
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)nsv4052183
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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