A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4141658



Internal ID20367054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91171156..91171295hg38UCSC Ensembl
chr7:90800471..90800610hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15922852
Samples
Known GenesCDK14
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)nsv4141658
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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