A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4099548



Internal ID20336712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145547709..145548947hg38UCSC Ensembl
chr4:146468861..146470099hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15895525
Samples
Known GenesSMAD1
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)nsv4099548
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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