A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4517779



Internal ID19901209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139564340..140053991hg38UCSC Ensembl
chrX:138646499..139136150hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38489652
hg19489652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989968
Samples
Known GenesATP11C, CXorf66, MCF2, MIR505
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)nsv4517779
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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