A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962021



Internal ID19687275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173547859..173946862hg38UCSC Ensembl
chr1:173516998..173916000hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38399004
hg19399003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517947
Supporting Variants
Samples
Known GenesANKRD45, CENPL, DARS2, GAS5, GAS5-AS1, KLHL20, LOC730159, RC3H1, SERPINC1, SLC9C2, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37
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)nssv15962021
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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