A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163047



Internal ID20382554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124896551..124909525hg38UCSC Ensembl
chr7:124536605..124549579hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3812975
hg1912975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981437
Samples
Known GenesPOT1
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)nsv4163047
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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