A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648792



Internal ID21597097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29397627..29397627hg38UCSC Ensembl
chr17:27724645..27724645hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083141
SamplesHG01596
Known GenesTAOK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648792
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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