A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567955



Internal ID20297839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50021322..50407051hg38UCSC Ensembl
chr10:51781082..52166811hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38385730
hg19385730
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787352
Samples
Known GenesASAH2, FAM21A, FAM21B, FLJ31813, SGMS1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4567955
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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