A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532059



Internal ID307990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48140989..48141603hg38UCSC Ensembl
chr17:46218351..46218965hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713547
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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