A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4222607



Internal ID20425401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37029295..37077295hg38UCSC Ensembl
chr14:37498500..37546500hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3848001
hg1948001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15819723
Samples
Known GenesSLC25A21
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)nsv4222607
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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