A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4186401



Internal ID20052643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71517168..71740619hg38UCSC Ensembl
chr10:73276925..73500376hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38223452
hg19223452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951460
Samples
Known GenesC10orf105, CDH23
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)nsv4186401
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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