A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047864



Internal ID20174288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123995614..124001398hg38UCSC Ensembl
chrX:123129464..123135248hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg385785
hg195785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947078
Samples
Known GenesSTAG2
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)nsv4047864
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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