A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531418



Internal ID307377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80277580..80297367hg38UCSC Ensembl
chr17:78251379..78271167hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3819788
hg1919789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714988
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531418
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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