A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034582



Internal ID19818338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30658552..30659915hg38UCSC Ensembl
chrX:30676669..30678032hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg381364
hg191364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15943255
Samples
Known GenesGK
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)nsv4034582
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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