A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528512



Internal ID20258631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50241239..50254240hg38UCSC Ensembl
chr10:52000999..52014000hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3813002
hg1913002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950776
Samples
Known GenesASAH2
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)nsv4528512
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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