A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4032896



Internal ID19817136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18854016..18914915hg38UCSC Ensembl
chr1:19180510..19241409hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3860900
hg1960900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966040
Samples
Known GenesALDH4A1, IFFO2, MIR4695, TAS1R2
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)nsv4032896
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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