A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949542



Internal ID19674796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126162164..127195224hg38UCSC Ensembl
chr10:127850733..128993488hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg381033061
hg191142756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4201678
Supporting Variants
Samples
Known GenesADAM12, C10orf90, DOCK1, FAM196A, LINC00601
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)nssv15949542
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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