A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15857429



Internal ID19929369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173447294..173460136hg38UCSC Ensembl
chr1:173416433..173429275hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3812843
hg1912843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071566
Supporting Variants
Samples
Known GenesLOC100506023
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)nssv15857429
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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