A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247968



Internal ID20442820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:24535853..24633853hg38UCSC Ensembl
chr15:24781000..24879000hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3898001
hg1998001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15825294
Samples
Known GenesPWRN1
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)nsv4247968
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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