A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034303



Internal ID19818137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30990012..31266359hg38UCSC Ensembl
chr1:31462859..31739206hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38276348
hg19276348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966171
Samples
Known GenesNKAIN1, PUM1, SNRNP40
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)nsv4034303
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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