A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571844



Internal ID19955036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94048534..94048535hg38UCSC Ensembl
chr9:96810816..96810817hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16085345
Samples
Known GenesPTPDC1
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)nsv4571844
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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