A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15850552



Internal ID19922539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248305738..248605228hg38UCSC Ensembl
chr1:248469040..248768529hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38299491
hg19299490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4054201
Supporting Variants
Samples
Known GenesOR14C36, OR2G6, OR2M7, OR2T1, OR2T10, OR2T2, OR2T29, OR2T3, OR2T34, OR2T4, OR2T5, OR2T6
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)nssv15850552
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000323


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