A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4056487



Internal ID19833792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160572648..160583539hg38UCSC Ensembl
chr1:160542438..160553329hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3810892
hg1910892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15856262
Samples
Known GenesCD84
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)nsv4056487
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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