A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945163



Internal ID20017103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6631837..6794538hg38UCSC Ensembl
chr10:6673799..6836500hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38162702
hg19162702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4526019
Supporting Variants
Samples
Known GenesLINC00706, LINC00707
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)nssv15945163
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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