A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4205161



Internal ID20066211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6355193..6537193hg38UCSC Ensembl
chr12:6464359..6646359hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38182001
hg19182001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951860
Samples
Known GenesCD27, CD27-AS1, GAPDH, LTBR, MRPL51, NCAPD2, SCARNA10, SCNN1A, TAPBPL, VAMP1
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)nsv4205161
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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