A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336444



Internal ID19839802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90018564..90023064hg38UCSC Ensembl
chr8:91030792..91035292hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791425
Samples
Known GenesDECR1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4336444
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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