A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125232



Internal ID21445175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32060046..32060046hg38UCSC Ensembl
chr22:32456033..32456033hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665507
Supporting Variants
SamplesHG00732
Known GenesSLC5A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125232
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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