A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101439



Internal ID21443976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45645619..45645619hg38UCSC Ensembl
chr18:43225584..43225584hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5645991
Supporting Variants
SamplesHG00732
Known GenesSLC14A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101439
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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