A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17082970



Internal ID21436032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80685133..80685133hg38UCSC Ensembl
chr17:78658933..78658933hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646003
Supporting Variants
SamplesHG00731
Known GenesRPTOR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17082970
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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