A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4177556



Internal ID20046336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91810940..91811569hg38UCSC Ensembl
chr10:93570697..93571326hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952125
Samples
Known GenesTNKS2
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)nsv4177556
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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