A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17086761



Internal ID21486086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80315769..80315769hg38UCSC Ensembl
chr17:78289569..78289569hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659037
Supporting Variants
SamplesNA12878
Known GenesRNF213
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17086761
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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