A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4036128



Internal ID20166105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135411737..135548853hg38UCSC Ensembl
chrX:134545662..134682778hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38137117
hg19137117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989917
Samples
Known GenesDDX26B, LINC00086
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 ID32461652
Accession Number(s)nsv4036128
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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