A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394516



Internal ID22452386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32954827..32954827hg38UCSC Ensembl
chr19:33445733..33445733hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974064
Supporting Variants
Samples
Known GenesCEP89
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394516
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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