A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047247



Internal ID20173866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14854084..14859391hg38UCSC Ensembl
chr1:15180580..15185887hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg385308
hg195308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15848575
Samples
Known GenesKAZN
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)nsv4047247
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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