A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652194



Internal ID21600499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31133914..31133914hg38UCSC Ensembl
chr17:29460932..29460932hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095902
SamplesHG03371
Known GenesNF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652194
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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