A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137220



Internal ID21464708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48322398..48322398hg38UCSC Ensembl
chr22:48718210..48718210hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5670921
Supporting Variants
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137220
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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