A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034476



Internal ID20164940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49331619..49338634hg38UCSC Ensembl
chrX:49197600..49206300hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg387016
hg198701
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786224, nssv15786219, nssv15786223, nssv15786222, nssv15786221, nssv15786218, nssv15786220, nssv15786225
Samples
Known GenesGAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE8
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)nsv4034476
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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