A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033109



Internal ID19817282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47461787..47461970hg38UCSC Ensembl
chrX:47321186..47321369hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988793
Samples
Known GenesZNF41
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)nsv4033109
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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