A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788139



Internal ID19513488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50060270..50902905hg38UCSC Ensembl
chr14:50526988..51369623hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38842636
hg19842636
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4339595
Supporting Variants
Samples
Known GenesABHD12B, ATL1, ATP5S, C14orf183, CDKL1, L2HGDH, MAP4K5, NIN, SAV1, SOS2, VCPKMT
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)nssv15788139
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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