A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650633



Internal ID21598938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57848854..57848854hg38UCSC Ensembl
chr17:55926215..55926215hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094025
SamplesHG03125
Known GenesMRPS23
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650633
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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