A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4167301



Internal ID20385669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124940600..124947055hg38UCSC Ensembl
chr8:125952842..125959297hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg386456
hg196456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15930134
Samples
Known GenesLINC00964
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)nsv4167301
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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