A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17093039



Internal ID21452547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65692701..65692701hg38UCSC Ensembl
chr17:63688819..63688819hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg385228
hg195228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646734
Supporting Variants
SamplesHG01596
Known GenesCEP112
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17093039
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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