A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034322



Internal ID19818154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1631180..2343393hg38UCSC Ensembl
chrX:1750073..2261434hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38712214
hg19511362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2846n166
Supporting Variantsnssv15986987
Samples
Known GenesASMT, DHRSX
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)nsv4034322
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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