A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4095176



Internal ID19986790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119504058..119773540hg38UCSC Ensembl
chr4:120425213..120694695hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38269483
hg19269483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972793
Samples
Known GenesPDE5A
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)nsv4095176
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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