A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039280



Internal ID20168311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61651902..61669938hg38UCSC Ensembl
chr1:62117574..62135610hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3818037
hg1918037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15852837
Samples
Known GenesMGC34796
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)nsv4039280
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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