A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065775



Internal ID20311847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179196221..179201225hg38UCSC Ensembl
chr1:179165356..179170360hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385005
hg195005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv135n166
Supporting Variantsnssv15964008
Samples
Known GenesABL2
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)nsv4065775
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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