A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4332948



Internal ID19839177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21659103..21782447hg38UCSC Ensembl
chr12:21812037..21935381hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38123345
hg19123345
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787723
Samples
Known GenesKCNJ8
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4332948
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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