A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15965445



Internal ID19690704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26849269..27100187hg38UCSC Ensembl
chr1:27175760..27426678hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38250919
hg19250919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517994
Supporting Variants
Samples
Known GenesC1orf172, FAM46B, GPATCH3, GPN2, NR0B2, NUDC, SFN, SLC9A1, TRNP1, ZDHHC18
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)nssv15965445
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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