A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4237194



Internal ID20088935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42542802..42570802hg38UCSC Ensembl
chr15:42835000..42863000hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg3828001
hg1928001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15823490
Samples
Known GenesHAUS2, LRRC57
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)nsv4237194
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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