A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256050



Internal ID20101625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64062661..64068202hg38UCSC Ensembl
chr17:62140021..62145562hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg385542
hg195542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15835867
Samples
Known GenesERN1
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)nsv4256050
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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