A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4032919



Internal ID20163831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:56273367..56432567hg38UCSC Ensembl
chrX:56299800..56459000hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38159201
hg19159201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988446
Samples
Known GenesKLF8
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)nsv4032919
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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