A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2864n166



Internal ID20168292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8435371..8919227hg38UCSC Ensembl
chrX:8403412..8887268hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38483857
hg19483857
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4321210, nsv4573264
Samples
Known GenesFAM9A, KAL1, VCX3B
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)dgv2864n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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