A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4064436



Internal ID19964196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244475635..244689590hg38UCSC Ensembl
chr1:244638937..244852892hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38213956
hg19213956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv193n166
Supporting Variantsnssv15962972
Samples
Known GenesC1orf101, DESI2
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)nsv4064436
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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