A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042196



Internal ID20170305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39200612..39204145hg38UCSC Ensembl
chr1:39666284..39669817hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383534
hg193534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15851025
Samples
Known GenesMACF1
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)nsv4042196
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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