A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17104586



Internal ID21427458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32954827..32954827hg38UCSC Ensembl
chr19:33445733..33445733hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5653962
Supporting Variants
SamplesHG00731
Known GenesCEP89
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17104586
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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