A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17127101



Internal ID21417342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41939840..41939840hg38UCSC Ensembl
chr22:42335844..42335844hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381208
hg191208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5671744
Supporting Variants
SamplesHG00731
Known GenesCENPM
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17127101
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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