A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4548556



Internal ID20278431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130424995..130424996hg38UCSC Ensembl
chr8:131437241..131437242hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16083664
Samples
Known GenesASAP1
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)nsv4548556
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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