A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4152172



Internal ID20027964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40037236..40160445hg38UCSC Ensembl
chr7:40076835..40200044hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38123210
hg19123210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979940
Samples
Known GenesC7orf10, CDK13, MPLKIP
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)nsv4152172
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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