A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15854208



Internal ID19579462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89191666..89478978hg38UCSC Ensembl
chr1:89657349..89944537hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38287313
hg19287189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4053476
Supporting Variants
Samples
Known GenesGBP1P1, GBP4, GBP5, GBP6, LOC729930
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)nssv15854208
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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