A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4057575



Internal ID19834584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96060952..97147263hg38UCSC Ensembl
chr2:96726700..97813000hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381086312
hg191086301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969644
Samples
Known GenesADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
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)nsv4057575
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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