A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4032644



Internal ID19816957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30852883..30883883hg38UCSC Ensembl
chrX:30871000..30902000hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3831001
hg1931001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987968
Samples
Known GenesTAB3
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)nsv4032644
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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