A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156864



Internal ID20378072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144754220..144792231hg38UCSC Ensembl
chr7:144451313..144489324hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3838012
hg1938012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15982060
Samples
Known GenesTPK1
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)nsv4156864
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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