A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034637



Internal ID20165048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10010307..10016497hg38UCSC Ensembl
chr1:10070365..10076555hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386191
hg196191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965401
Samples
Known GenesRBP7
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)nsv4034637
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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