A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4038554



Internal ID19821130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53303618..53387180hg38UCSC Ensembl
chrX:53332800..53414100hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3883563
hg1981301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988883
Samples
Known GenesIQSEC2, SMC1A
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)nsv4038554
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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