A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068253



Internal ID19966972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246741375..246860831hg38UCSC Ensembl
chr1:246904677..247024133hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38119457
hg19119457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965191
Samples
Known GenesAHCTF1, LOC149134, SCCPDH
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)nsv4068253
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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