A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4138388



Internal ID20364662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31727186..31886787hg38UCSC Ensembl
chr7:31766800..31926400hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38159602
hg19159601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980841
Samples
Known GenesPDE1C
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)nsv4138388
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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