A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065639



Internal ID19965055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20710277..20711117hg38UCSC Ensembl
chr2:20910037..20910877hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15866189
Samples
Known GenesC2orf43
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)nsv4065639
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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