A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530656



Internal ID306630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57835914..57848510hg38UCSC Ensembl
chr17:55913275..55925871hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3812597
hg1912597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713779
Samples
Known GenesMRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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