A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4185575



Internal ID20398760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121717061..121718217hg38UCSC Ensembl
chr9:124479340..124480496hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381157
hg191157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15938970
Samples
Known GenesDAB2IP
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)nsv4185575
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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