A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529333



Internal ID305358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18312187..18318318hg38UCSC Ensembl
chr17:18215501..18221632hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386132
hg196132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711900
Samples
Known GenesSMCR8, TOP3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529333
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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