A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4568970



Internal ID19952165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:44903602..44903603hg38UCSC Ensembl
chrX:44762848..44762849hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16088456
Samples
Known GenesKDM6A
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)nsv4568970
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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