A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231946



Internal ID20085391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123076425..123304379hg38UCSC Ensembl
chr12:123560972..123788926hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38227955
hg19227955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955845
Samples
Known GenesC12orf65, CDK2AP1, LOC100507091, MPHOSPH9, PITPNM2, SBNO1
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)nsv4231946
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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