A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4071640



Internal ID20316091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174551350..174623042hg38UCSC Ensembl
chr1:174520488..174592180hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3871693
hg1971693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15857150
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)nsv4071640
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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