A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2926n166



Internal ID20168354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119240009..119309936hg38UCSC Ensembl
chrX:118373972..118443899hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3869928
hg1969928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4046413, nsv4044803, nsv4045715
Samples
Known GenesPGRMC1
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)dgv2926n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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