A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217082



Internal ID20074801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70792173..71105839hg38UCSC Ensembl
chr14:71258890..71572556hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38313667
hg19313667
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952480
Samples
Known GenesMAP3K9, PCNX
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)nsv4217082
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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