A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4235888



Internal ID20088032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40756802..40781302hg38UCSC Ensembl
chr15:41049000..41073500hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3824501
hg1924501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15824051
Samples
Known GenesC15orf62, DNAJC17, GCHFR
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)nsv4235888
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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