A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5664811



Internal ID21613118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48512133..48512133hg38UCSC Ensembl
chr22:48907945..48907945hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137264
SamplesHG01596
Known GenesFAM19A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5664811
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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