A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4530668



Internal ID19914098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103629594..103731235hg38UCSC Ensembl
chr14:104095931..104197572hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38101642
hg19101642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957266
Samples
Known GenesKLC1, XRCC3, ZFYVE21
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)nsv4530668
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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