A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529332



Internal ID305356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54631610..54997284hg38UCSC Ensembl
chr17:52708971..53074645hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38365675
hg19365675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724734
Samples
Known GenesCOX11, STXBP4, TOM1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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