A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047644



Internal ID19827502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13548033..13902076hg38UCSC Ensembl
chrX:13566152..13920195hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38354044
hg19354044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987878
Samples
Known GenesEGFL6, GPM6B, MIR6086, OFD1, RAB9A, TCEANC, TRAPPC2
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)nsv4047644
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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