A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035984



Internal ID19819336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19828533..20351851hg38UCSC Ensembl
chrX:19846651..20369969hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38523319
hg19523319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988402
Samples
Known GenesCXorf23, EIF1AX, LOC729609, MAP7D2, MIR23C, RPS6KA3, SCARNA9L, SH3KBP1
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)nsv4035984
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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