A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039197



Internal ID19821597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:37789159..37813772hg38UCSC Ensembl
chrX:37648412..37673025hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3824614
hg1924614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988133
Samples
Known GenesCYBB
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)nsv4039197
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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