A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4232565



Internal ID20432527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17288794..17303687hg38UCSC Ensembl
chr17:17192108..17207001hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3814894
hg1914894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834288
Samples
Known GenesNT5M
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)nsv4232565
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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