A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4056960



Internal ID19834136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84297100..85026280hg38UCSC Ensembl
chr1:84762783..85491963hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38729181
hg19729181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15852638
Samples
Known GenesC1orf180, CTBS, DNASE2B, GNG5, LPAR3, MCOLN2, MCOLN3, RPF1, SAMD13, SSX2IP, UOX
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)nsv4056960
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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