A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4101000



Internal ID19991092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139295684..139327629hg38UCSC Ensembl
chr4:140216838..140248783hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3831946
hg1931946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974484
Samples
Known GenesNAA15, NDUFC1
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)nsv4101000
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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