A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532389



Internal ID308313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17543748..17544466hg38UCSC Ensembl
chr17:17447062..17447780hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711857
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532389
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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