A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4344517



Internal ID19841368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:71993214..76871268hg38UCSC Ensembl
chr18:69660449..74583224hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg384878055
hg194922776
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788704
Samples
Known GenesC18orf63, CBLN2, CNDP1, CNDP2, CYB5A, FAM69C, FBXO15, FLJ44313, LINC00908, LINC00909, LOC100131655, LOC100505817, LOC339298, LOC400655, NETO1, SMIM21, TIMM21, TSHZ1, ZADH2, ZNF236, ZNF407, ZNF516
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)nsv4344517
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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