A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961453



Internal ID19686707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74517764..74696044hg38UCSC Ensembl
chr18:72184999..72408000hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38178281
hg19223002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4531550
Supporting Variants
Samples
Known GenesCNDP1, CNDP2, LINC00909, ZNF407
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)nssv15961453
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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