A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4069016



Internal ID20314206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175177429..175265583hg38UCSC Ensembl
chr1:175146565..175234719hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3888155
hg1988155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15857191
Samples
Known GenesKIAA0040
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)nsv4069016
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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