A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4177019



Internal ID20045966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73368084..73377410hg38UCSC Ensembl
chr10:75127842..75137168hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg389327
hg199327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951479
Samples
Known GenesANXA7
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)nsv4177019
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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