A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532886



Internal ID308797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67932187..67996916hg38UCSC Ensembl
chr17:65928303..65993032hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3864730
hg1964730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714192
Samples
Known GenesBPTF, C17orf58
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532886
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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