A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201903



Internal ID20063874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52512234..52524436hg38UCSC Ensembl
chr12:52906018..52918220hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3812203
hg1912203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953112
Samples
Known GenesKRT5
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)nsv4201903
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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