A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065774



Internal ID20311846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174934236..174937529hg38UCSC Ensembl
chr1:174903373..174906666hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383294
hg193294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15857175
Samples
Known GenesRABGAP1L
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 ID32461652
Accession Number(s)nsv4065774
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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