A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649790



Internal ID21598095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80825157..80825157hg38UCSC Ensembl
chr17:78798957..78798957hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093866
SamplesHG00731
Known GenesRPTOR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649790
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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