A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523387



Internal ID299624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80313472..80315254hg38UCSC Ensembl
chr17:78287272..78289054hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381783
hg191783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv222n206
Supporting Variantsnssv17714990
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523387
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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