A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079325



Internal ID21437717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19154751..19154751hg38UCSC Ensembl
chr12:19307685..19307685hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5658617
Supporting Variants
SamplesHG00731
Known GenesPLEKHA5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079325
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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