A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4061079



Internal ID20308443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180431923..180437642hg38UCSC Ensembl
chr1:180401058..180406777hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385720
hg195720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15857478
Samples
Known GenesACBD6
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)nsv4061079
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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