A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4050814



Internal ID19829727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44007930..44837335hg38UCSC Ensembl
chr1:44473602..45303007hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38829406
hg19829406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961187
Samples
Known GenesBEST4, BTBD19, C1orf228, DMAP1, ERI3, KIF2C, KLF17, MIR5584, PLK3, PTCH2, RNF220, RPS8, SLC6A9, SNORD38A, SNORD38B, SNORD46, SNORD55, TCTEX1D4, TMEM53
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)nsv4050814
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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