A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247183



Internal ID20442281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:95284850..95290257hg38UCSC Ensembl
chr15:95828079..95833486hg19UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg385408
hg195408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15828161
Samples
Known GenesLOC400456
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)nsv4247183
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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