A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5671042



Internal ID21619347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43270607..43270607hg38UCSC Ensembl
chr22:43666613..43666613hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129429
SamplesHG02011
Known GenesSCUBE1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5671042
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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