A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256205



Internal ID20101738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40884793..40885584hg38UCSC Ensembl
chr17:39041045..39041836hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834391
Samples
Known GenesKRT20
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 ID12345678
Accession Number(s)nsv4256205
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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