A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4215387



Internal ID20073615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101654914..101853785hg38UCSC Ensembl
chr12:102048692..102247563hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38198872
hg19198872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955240
Samples
Known GenesCHPT1, GNPTAB, MYBPC1, SYCP3
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)nsv4215387
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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