A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137868



Internal ID21418030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41835231..41835231hg38UCSC Ensembl
chr22:42231235..42231235hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669477
Supporting Variants
SamplesHG00731
Known GenesSREBF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137868
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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