A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088184



Internal ID21455511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80613665..80613794hg38UCSC Ensembl
chr17:78587465..78587594hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5601368
Supporting Variants
SamplesHG02011
Known GenesRPTOR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088184
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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