A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4189014



Internal ID20401203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50535408..50540709hg38UCSC Ensembl
chr10:52295168..52300469hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg385302
hg195302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15793951
Samples
Known GenesSGMS1
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)nsv4189014
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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