A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4127727



Internal ID20010356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36604450..36605899hg38UCSC Ensembl
chr6:36572227..36573676hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15907877
Samples
Known GenesSRSF3
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)nsv4127727
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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