A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4128953



Internal ID20011233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35023395..35078898hg38UCSC Ensembl
chr5:35023500..35079000hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3855504
hg1955501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975835
Samples
Known GenesAGXT2, PRLR
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 ID12345678
Accession Number(s)nsv4128953
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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