A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17134048



Internal ID21447234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30623821..30623821hg38UCSC Ensembl
chr22:31019808..31019808hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5672059
Supporting Variants
SamplesHG00732
Known GenesTCN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17134048
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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